Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.)

Edited by Robert P. Erickson and Anthony J. Wynshaw-Boris

Abstract

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.

Bibliographic Information

Publisher:: Oxford University Press

Print Publication Date:: Jun 2016

Print ISBN-13:: 9780199934522

Published online:: Jul 2016

DOI:: 10.1093/med/9780199934522.001.0001

Authors

Robert P. Erickson, editor Professor of Pediatrics, University of Arizona

Anthony J. Wynshaw-Boris, editor Professor and Chair, Department of Genetics and Genome Sciences, Case Western Reserve University

Disclaimer

Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breastfeeding.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.

Front Matter
I General Concepts
- 1 Human Malformations and Their Genetic Basis Charles J. Epstein
- 2 Principles of Differentiation and Morphogenesis Scott F. Gilbert and Ritva Rice
- 3 Model Organisms in the Study of Development and Disease Ethan Bier and William Mcginnis
- 4 Human Genomics and Human Development Robert Nussbaum
II Patterns of Development
- 5 Development of Left-Right Asymmetry Hiroshi Hamada
- 6 Neural Crest Formation and Craniofacial Development Kurt A. Engleka and Jonathan A. Epstein
- 7 Development of the Nervous System John L. R. Rubenstein and Luis Puelles
- 8 Development of the Eye David C. Beebe
- 9 Development of the Ear Donna M. Fekete
- 10 Molecular Regulation of Cardiogenesis Deepak Srivastava and Joseph T. C. Shieh
- 11 Update on the Development of the Vascular System and Its Sporadic Disorders M. Michael Cohen Jr.
- 12 Muscle and Somite Development Douglas M. Anderson and Alan Rawls
- 13 The Development of Bone and Cartilage Shunichi Murakami, Haruhiko Akiyama, and Benoit De Crombrugghe
- 14 Limb Development Malte Spielmann and Sigmar Stricker
- 15 The Sex-Determination Pathway Peter J. Ellis and Robert P. Erickson
- 16 Development of the Kidney Kevin T. Bush, Mita M. Shah, Dylan L. Steer, Derina E. Sweeney, and Sanjay K. Nigam
- 17 Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut Ben Z. Stanger
- 18 Development of Epidermal Appendages: Teeth and Hair Atsushi Ohazama and Paul T. Sharpe
III Defined Core Developmental Pathways Linked to Cilia
- A Ciliary Functions: Genesis, Transport, and Reabsorbtion
  - 19 Primary Ciliary Dyskinesia (Kartagener Syndrome) Michal Witt and Zuzanna Bukowy-Bieryłło
  - 20 The Molecular Basis of Joubert Syndrome and Related Disorders Jeong Ho Lee and Joseph G. Gleeson
  - 21 The Bardet-Biedl Syndrome Val C. Sheffield, Qihong Zhang, Elise Heon, Arlene V. Drack, Edwin M. Stone, and Rivka Carmi
  - 22 The Molecular Basis of Oral-Facial-Digital Type I Syndrome Brunella Franco
  - 23 Meckel Syndrome Amanda Leightner and Peter C. Harris
  - 24 From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene Férechté Encha Razavi and Tania Attie-Bitach
  - 25 Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy Joanna Walczak-Sztulpa and Anna Latos-Bielenska
  - 26 MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes Leslie G. Biesecker
- B. The Sonic Hedgehog Signaling Pathway
  - 27 The Hedgehog Signaling Network M. Michael Cohen Jr.
  - 28 Smith-Lemli-Opitz Syndrome Wen-Hann Tan and Mira B. Irons
  - 29 SHH and Holoprosencephaly Khosrow S. Houschyar, Andrew A. Smith, and Jill A. Helms
  - 30 IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1 Jan Hellemans and Geert R. Mortier
  - 31 PTCH and the Basal Cell Nevus (Gorlin) Syndrome Ervin Epstein Jr
  - 32 GLI3 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes Leslie G. Biesecker
  - 33 SALL1 and the Townes-Brocks Syndrome Jürgen Kohlhase, Rosa Barrio, James D. Sutherland
  - 34 MYCN and Feingold Syndrome Hans Van Bokhoven and Han G. Brunner
  - 35 Preaxial Polydactyly Type 2 and Associated Limb Defects Robert Hill and Laura Lettice
- C. The WNT Signaling Pathway
  - 36 The Wnt Signaling Pathway Benjamin N. R. Cheyette and Kimberly A. Mulligan
  - 37 AXIN2, Tooth Agenesis, and Colorectal Cancer Pekka Nieminen, Laura Lammi, and Heikki J. Järvinen
  - 38 WNT3 and Tetra-Amelia Stephan Niemann
  - 39 ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome Andrew O. M. Wilkie
  - 40 Cenani-Lenz Syndrome Nina Bögershausen and Bernd Wollnik
  - 41 Goltz Syndrome (Focal Dermal Hypoplasia) Ignatia B. Van Den Veyver and V. Reid Sutton
  - 42 WNT10A and Odonto-Onycho-Dermal Dysplasia Hala Mégarbané and André Mégarbané
  - 43 Al-Awadi-Raas-Rothschild Syndrome/Fuhrmann Syndrome Geoff Woods
  - 44 AXIN1 and Caudal Duplication Anomaly Christine R. Zhang and Suyinn Chong
- D. The Planar Cell Polarity (PCP) Pathway
  - 45 Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects Elena Torban, Alexandra Iliescu, and Philippe Gros
IV Other Defined Core Developmental Pathways
- A The TGF-β‎ Signaling Pathway
  - 46 An Introduction to TGF-β‎ Family Signaling Jacqueline Nguyen and Tamara Alliston
  - 47 NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis Stefan Mundlos
  - 48 NODAL Signaling and Heterotaxy Stephanie M. Ware and John W. Belmont
  - 49 ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) Sudha Srinivasan, Jonathan N. Berg, and Douglas A. Marchuk
  - 50 RUNX2 and Cleidocranial Dysplasia Lindsay C. Burrage, Yangjin Bae, Brendan H. Lee, and Dobrawa Napierala
  - 51 AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome Jean-Yves Picard
  - 52 LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis Jan Hellemans and Geert R. Mortier
  - 53 TGFBR 1/2 and Loeys-Dietz Syndrome Bart L. Loeys and Harry C. Dietz
  - 54 ZEB2 and Mowat-Wilson Syndrome Meredith Wilson, Irina Giurgea, and David Mowat
  - 55 LTBP4 and Autosomal Recessive Cutis Laxa Type IC Zsolt Urban
  - 56 ACVR1 and Fibrodysplasia Ossificans Progressiva Frederick S. Kaplan, O. W. Towler, and Eileen M. Shore
  - 57 The Role of the Latent TGF-β‎ Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities Muhammad Ayub, Abdul Noor, and John B. Vincent
- B. The TNF Signaling Pathway
  - 58 Signaling by TNF and Related Ligands Pascal Schneider
  - 59 The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias Jonathan Zonana and Kenneth Huttner
- C. The FGF Signaling Pathway
  - 60 Molecular and Cellular Biology of FGF Signaling Jacob V. P. Eswarakumar
  - 61 FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes Andrew O. M. Wilkie
  - 62 FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome Jeff M. Milunsky
  - 63 TWIST1 and the Saethre-Chotzen Syndrome Ethylin Wang Jabs
  - 64 FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital (Kallmann) Syndrome Jean-Pierre Hardelin and Catherine Dodé
  - 65 TIE2 (TEK) and Venous Malformation Nisha Limaye, Melanie Uebelhoer, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula
  - 66 FLT4 (VEGFR3) and Milroy Disease Robert E. Ferrell, David N. Finegold, and Catherine J. Baty
  - 67 Focal Facial Dermal Dysplasias Anne M. Slavotinek, Beom Hee Lee, and Robert J. Desnick
- D. Glial Cell‒Derived Neurotrophic Factor Signaling
  - 68 Signaling Pathways of Glial Cell–Derived Neurotrophic Factor Louis Reichardt
  - 69 RET Mutation and Function in HSCR, MEN2, and Other Cancers Sumantra Chatterjee, Zachary E. Stine, Andrew S. Mccallion, and Aravinda Chakravarti
- E. Introduction to Endothelin-B Receptor and SOX10 Pathways
  - 70 Introduction to Endothelin-B Receptor and SOX10 Pathways Monalee Saha and Cheryl E. Gariepy
  - 71 EDNRB, EDN3, SOX10, and the Shah-Waardenburg Syndrome (WS4) Joke B. G. M. Verheij and Robert M. W. Hofstra
- F. The Notch Signaling Pathway
  - 72 Introduction to Notch Signaling Alison Miyamoto and Gerry Weinmaster
  - 73 JAG1 and NOTCH2 and the Alagille Syndrome Nancy B. Spinner, Laura D. Leonard, Alexandra M. Falsey, and Ian D. Krantz
  - 74 DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis Peter D. Turnpenny, Kenro Kusumi, and Sally L. Dunwoodie
- G. The PI3K-LKB1 Pathway
  - 75 The PI3K-LKB1 Pathway Reuben J. Shaw and Lewis C. Cantley
  - 76 PTEN and Cowden and Bannayan-Riley-Ruvalcaba Syndromes Pauline Funchain and Charis Eng
  - 77 STK11 (LKB1) and Peutz-Jeghers Syndrome Stylianos E. Antonarakis
  - 78 TSC1, TSC2, and Tuberous Sclerosis David J. Kwiatkowski
- H. The RAS/ERK/MAPK Pathway
  - 79 The RAS Pathway Jeffrey Swensen and David Viskochil
  - 80 Neurofibromatosis Type 1 Heather Riordan and David H. Gutmann
  - 81 Noonan Syndrome and RAS Signaling Defects Marco Tartaglia and Bruce D. Gelb
  - 82 HRAS and Costello Syndrome Yoko Aoki and Yoichi Matsubara
  - 83 The Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome Katherine A. Rauen
  - 84 RASA1 and Capillary Malformation–Arteriovenous Malformation Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula
  - 85 SPRED1 and Legius Syndrome Hilde Brems, Ludwine Messiaen, and Eric Legius
- I. Eph/Ephrin Signaling
  - 86 Introduction to Eph/Ephrin Signaling in Vertebrate Development Audrey K. O’Neill and Jeffrey O. Bush
  - 87 Craniofrontonasal Syndrome and EFNB1 Mutations Peter Wieacker and Judit Horvath
V. Transcription Factors and Chromatin Regulators
- A. The Homeobox Gene Family
  - 88 The Role of Hox and Dlx Gene Clusters in Evolution and Development Frank H. Ruddle
  - 89 HOXA1 Deficiency Syndrome Max A. Tischfield, Robert P. Erickson, and Elizabeth C. Engle
  - 90 HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis Amy E. Geddis
  - 91 HOXA13 Hand-Foot-Genital Syndrome and Guttmacher Syndrome Jeffrey W. Innis
  - 92 HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities Anthony E. Shrimpton and E. Mark Levinsohn
  - 93 HOXD13 and Synpolydactyly Frances R. Goodman and Peter J. Scambler
  - 94 EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia Daniel Kelberman and Mehul T. Dattani
  - 95 PDX1, Pancreatic Agenesis, and Type 2 Diabetes Melissa K. Thomas and Joel F. Habener
  - 96 MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome Marie-José H. Van Den Boogaard and Hans-Kristian Ploos Van Amstel
  - 97 MSX2 in Craniosynostosis and Defects of Skull Ossification Mamoru Ishii, Robert Maxson, and Ulrich Muller
  - 98 SHOX, Dyschondrosteosis, and Turner Syndrome Jay W. Ellison
  - 99 HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome Stephen Scherer, Giuseppe Martucciello, Margherita Lerone, and Elena Belloni
  - 100 Branchio-Oto-Renal (BOR) Syndrome Fowzan S. Alkuraya and Richard L. Maas
  - 101 PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment Linda M. Reis and Elena V. Semina
  - 102 NKX2-5 and Congenital Heart Disease Avihu Z. Gazit, Susan N. Foerster, and Patrick Y. Jay
  - 103 LMX1B and the Nail-Patella Syndrome Philippe M. Campeau, Nadejda A. Bespalova, and Brendan H. Lee
  - 104 The ALX Homeobox Gene Family and Frontonasal Dysplasias Arda Cetinkaya and Nurten A. Akarsu
  - 105 Simplex and Complex Microphthalmia Genes—OTX2, RAX, VSX2, VAX1, SIX6, and HMX1 Anne M. Slavotinek
  - 106 PRRX1 Joy Samanich and Elaine Pereira
  - 107 Developmental Abnormalities Due to Mutations in the Aristaless-Related Homeobox Gene Cheryl Shoubridge, Michael Field, Richard J. Leventer, and Jozef Gecz
  - 108 PITX1-Associated Congenital Lower Limb Malformations Christina A. Gurnett and Matthew B. Dobbs
- B. The Paired Box (PAX) Gene Family
  - 109 The Paired Box (PAX) Gene Family: Introduction to Paired Box Genes Cherie Stayner, Caiyun G. Li, Petros P. Petrou, Peter Gruss, and Michael R. Eccles
  - 110 PAX2 and the Renal-Coloboma Syndrome Michael R. Eccles, Matthew Bower, and Lisa A. Schimmenti
  - 111 PAX3 and Waardenburg Syndrome Type 1 Kirby A. Ziegler, Gareth N. Corry, and D. Alan Underhill
  - 112 PAX6, Aniridia, and Related Phenotypes Veronica Van Heyningen and Kathleen Williamson
  - 113 PAX9 and Hypodontia Pragna I. Patel and Donald T. Brown
- C. The Forkhead Gene Family
  - 114 Introduction to Forkhead Genes Naoyuki Miura
  - 115 FOXC1, FOXL2, the Axenfeld–Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Fred B. Berry and Michael A. Walter
  - 116 FOXC2, FOXF1, and the 16q24.1-Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes Robert P. Erickson
  - 117 FOXE1: Bamforth-Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer Predisposition Masaru Katoh, Masuko Katoh, Mireille Castanet , Aurore Carré, and Michel Polak
  - 118 AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome Qiuyun Chen, Mohammad Reza Amini, and Qing Kenneth Wang
- D. The T-Box Gene Family
  - 119 Introduction to the T-Box Genes: Their Evolution and Roles in Development Virginia E. Papaioannou and Sarah N. Goldin
  - 120 The 22q11.2 Deletion Syndrome and TBX1 Bernice E. Morrow, Donna M. Mcdonald-Mcginn, and Beverly S. Emanuel
  - 121 TBX3, TBX5, and the Ulnar-Mammary and Holt-Oram Syndromes Michael J. Bamshad and Lynn B. Jorde
  - 122 TBX22, X-linked Cleft Palate, and Ankyloglossia Erwin Pauws and Philip Stanier
- E. The SOX Gene Family
  - 123 Sox Genes in Development and Disease Peter Koopman
  - 124 SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract David R. Fitzpatrick
  - 125 SOX3 and Infundibular Hypoplasia Kyriaki S. Alatzoglou, Daniel Kelberman, and Mehul T. Dattani
  - 126 SOX9, Campomelic Dysplasia, and Sex Reversal Sahar Mansour
  - 127 SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome Pascal Brouillard, Koen Devriendt, and Miikka Vikkula
- F. Transcription Factors
  - 128 MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes Lina Naga and Thomas J. Hornyak
  - 129 POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) Hannie Kremer, Cor W. R. J. Cremers, Erwin Van Wijk, and Frans P. M. Cremers
  - 130 Char and Branchio-Oculo-Facial Syndromes: The AP-2 Transcription Factor Defects Matthew Bock and Bruce D. Gelb
  - 131 GATA3, Hypoparathryoidism, Deafness, and Renal Disease R. V. Thakker
  - 132 FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia Anne M. Slavotinek
  - 133 PTF1A: Pancreatic and Cerebellar Agenesis Jayne A. L. Houghton and Andrew T. Hattersley
  - 134 RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome Melanie Lacaria, Weimin Bi, and James R. Lupski
  - 135 SALL4 and the Duane Radial-Ray/Okihiro and Acro-Renal-Ocular Syndromes Jürgen Kohlhase, Rosa Barrio, and James D. Sutherland
  - 136 HNF1B-MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Pancreas and Urogenital Tract Due to Mutations in HNF1B Oddmund Søvik, Jørn V. Sagen, Ingfrid S. Haldorsen, Erling Tjora, and PåL R. Njølstad
  - 137 ZIC1, ZIC4, and FOXC1 in Dandy-Walker Malformation Kathleen J. Millen
  - 138 MED12 and Opitz-Kaveggia Syndrome Michael J. Lyons
  - 139 Börjeson-Forssman-Lehmann Syndrome and PHF6 Mark A. Corbett, Matthew Hunter, and Jozef Gecz
- G. Regulation of Chromatin Structure and Gene Expression
  - 140 Mechanisms of Regulated Gene Transcription Robert B. Weiss, Kristen Jepsen, Valentina Perissi, Victoria Lunyak, Michael G. Rosenfeld, and Christopher K. Glass
  - 141 CBP (CREBBP), the Rubinstein-Taybi Syndrome, and the 16p13.3 Duplication Syndrome Fred Petrij and Dorien J. M. Peters
  - 142 ATRX, X-Linked α‎-Thalassemia Mental Retardation Richard J. Gibbons, Takahito Wada, and Christopher A. Fisher
  - 143 IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome Marcel Mannens, I. Karen Temple, and Frederic Brioude
  - 144 Prader-Willi Syndrome Shawn E. Mccandless and Suzanne B. Cassidy
  - 145 Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Silvère Van Der Maarel and Corry Weemaes
  - 146 RSK2 and the Coffin-Lowry Syndrome Anne Schneider, Jean-Pierre Delaunoy, and André Hanauer
  - 147 The BCL6 Corepressor (BCOR) and Oculofaciocardiodental Syndrome Emma Hilton, Graeme C. M. Black, and Vivian Bardwell
  - 148 CHD7 and CHARGE Syndrome Donna M. Martin and Conny M. A. Van Ravenswaaij Arts
  - 149 Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome Luba Kalaydjieva, Teodora Chamova, and Rebecca Gooding
  - 150 ESCO2 and Roberts Syndrome Hugo Vega, Miriam Gordillo, and Ethylin Wang Jabs
  - 151 MS. 173/Pathways—Cohesinopathies Yaning Wu, Matthew A. Deardorff, and Ian D. Krantz
  - 152 NSD1 and Sotos Syndrome Remco Visser and Naomichi Matsumoto
  - 153 Kabuki Syndrome Margaret P. Adam and Louanne Hudgins
  - 154 SETBP1 and Schinzel-Giedion Syndrome Kenichi Yoshida, Bregje W. M. Van Bon, and Seishi Ogawa
  - 155 HDAC4 and 2q37 Deletion Syndrome Trang Le and Sarah Elsea
  - 156 Warsaw Breakage Syndrome Johan P. De Winter
VI Cellular Processes and Dynamics
- A. RNA Localization and Control of Activity
  - 157 Posttranscriptional Control: Nuclear RNA Processing Maurice S. Swanson and John P. Aris
  - 158 FMR1 and the Fragile X Syndrome Kathryn B. Garber, Jeannie Visootsak, and Stephen T. Warren
  - 159 TCOF1 (Treacle) and the Treacher-Collins Syndrome Jill Dixon, Paul A. Trainor, and Michael J. Dixon
  - 160 RMRP and Cartilage-Hair Hypoplasia Pia Hermanns, Bernhard Zabel, and Brendan H. Lee
- B. Posttranslational Control and Ubiquitination
  - 161 An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis Peter K. Jackson
  - 162 UBE3A and the Angelman Syndrome Charles A. Williams
  - 163 VHL and Von Hippel–Lindau Disease Eamonn R. Maher
  - 164 PQBP1 and Renpenning Syndrome, Related XLID Syndromes, and Nonsyndromic XLID Charles E. Schwartz
  - 165 TBCE and the Hypoparathyroidism-Retardation- Dysmorphism (HRD) Syndrome George A. Diaz, Ruti Parvari, Eli Hershkovitz, and Monica Sentmanat
  - 166 UBR1, the N-End-Rule Pathway, and the Johanson-Blizzard Syndrome Martin Zenker
  - 167 3M Syndrome Céline Huber and Valérie Cormier-Daire
  - 168 Peters Plus Syndrome Saskia A. J. Lesnik Oberstein, Martine J. Van Belzen, and Raoul C. M. Hennekam
  - 169 X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome Gholson J. Lyon, Lynne M. Bird, and Alan Rope
- C. Cell Cycle, Proliferation, and Apoptosis
  - 170 An Introduction to the Mechanisms of Cell-Cycle Regulation and Apoptosis Katrien Vermeulen, Dirk R. Van Bockstaele, Viggo F. I. Van Tendeloo, and Zwi N. Berneman
  - 171 Hutchinson-Gilford Progeria Syndrome Frank G. Rothman and Leslie B. Gordon
  - 172 Fanconi Anemia Henri Van De Vrugt and Markus Grompe
  - 173 RECQL4-Related Recessive Conditions L. Van Maldergem, J. Piard, L. Larizza, and L. L. Wang
  - 174 TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation) Michael J. Bamshad
  - 175 Seckel Syndrome Mark O’Driscoll
  - 176 Miller Syndrome Dagmar Wieczorek and David R. Fitzpatrick
  - 177 Meier-Gorlin Syndrome Mark E. Samuels, Cheri L. Deal, and David L. Skidmore
  - 178 Desbuquois Dysplasia Céline Huber and Valérie Cormier-Daire
- D. Guanine Nucleotide-Binding Proteins
  - 179 GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism Lee S. Weinstein
  - 180 FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400 Jerome L. Gorski
  - 181 RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, and the Warburg Micro and Martsolf Syndromes Irene Aligianis and Mark Handley
  - 182 GPR56 and Bilateral Frontoparietal Polymicrogyria Xianhua Piao
  - 183 ARHGAP31, DOCK6, RBPJ, EOGT, and Adams-Oliver Syndrome Laura Southgate and Richard C. Trembath
- E. Microtubule Motors and the Cytoskeleton
  - 184 Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration Anthony J. Wynshaw-Boris
  - 185 Classic Lissencephaly Joseph G. Gleeson and Deborah J. Morris Rosendahl
  - 186 Lissencephaly With Cerebellar Hypoplasia Eric C. Olson and Christopher A. Walsh
  - 187 FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III Stephen P. Robertson and Deborah Krakow
  - 188 Oblique Facial Clefts Valeriy Shubinets, Richard L. Maas, and Eric C. Liao
  - 189 Deletion of 7q11.23 Genes and Williams Syndrome Li Dai, Anna Järvinen, Ursula Bellugi, Debra L. Mills, Timothy T. Brown, Eric Halgren, Barbara R. Pober, and Julie R. Korenberg
  - 190 SH3PXD2B and Frank–Ter Haar Syndrome Hans Van Bokhoven
- F. Vesicle-Mediated Trafficking and Endocytosis
  - 191 Inborn Defects of Membrane Trafficking Elina Ikonen
  - 192 VPS13B and Cohen Syndrome Forbes D. C. Manson, Kate E. Chandler, Graeme C. M. Black, and Deborah J. Morris-Rosendahl
  - 193 VPS33B, VIPAS39, and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Paul Gissen
  - 194 SEC23A and Cranio-Lenticulo-Sutural Dysplasia Jinoh Kim and Simeon A. Boyadjiev
  - 195 Griscelli Syndrome Haggit Hurvitz, Andrew R. Cullinane, Marjan Huizing, and Yair Anikster
- G. Extracellular Matrix
  - 196 Extracellular Matrix and Signaling During Development Joanna J. Phillips, Scott B. Selleck, and Sally E. Stringer
  - 197 GPC3 and the Simpson-Golabi-Behmel Syndrome Michael R. Debaun, Rick A. Martin, and Scott Saunders
  - 198 HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-Jampel Syndrome Sophie Nicole and Bertrand Fontaine
  - 199 L1CAM and X-Linked Hydrocephalus (L1 Syndrome) Yvonne Vos, Jean-Pierre Fryns, and Connie Schrander-Stumpel
  - 200 COMP and Pseudoachondroplasia Matthew J. Rock and Daniel H. Cohn
  - 201 ZIC3 Related Disorders: X-linked Heterotaxy, Vacterl-X, Situs Inversus and Isolated CHD Mardi J. Sutherland and Stephanie M. Ware
  - 202 Human MMP-2/MT1-MMP Deficiency: Multicentric Osteolysis With Nodulosis, Arthropathy (MONA), and Winchester Syndromes Rebecca A. Mosig and John A. Martignetti
  - 203 ADAMTS10, ADAMTS17, and FBN1: The Weill-Marchesani Syndrome Carine Le Goff and Valérie Cormier-Daire
  - 204 Fraser Syndrome and Related Conditions Peter J. Scambler
  - 205 TRPS1 and the Tricho-Rhino-Phalangeal Syndrome Hermann-Josef Lüdecke and Bernhard Horst Hemke
  - 206 Walker-Warburg Syndrome: Genetic Heterogeneity Converging at the Abnormal Glycosylation of Alpha-Dystroglycan Moniek Riemersma, Dirk J. Lefeber, and Hans Van Bokhoven
  - 207 HPSE2, LRIG2, and the Urofacial Syndrome Helen M. Stuart, Adrian S. Woolf, and William G. Newman
  - 208 Bifid Nose, Anorectal Malformation, and Renal Agenesis (BNAR) Syndrome Fowzan S. Alkuraya
  - 209 CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb–Clubfoot Syndrome) Andreas R. Janecke
  - 210 Synpolydactyly and Mutations in the Hoxd13 Gene Philippe Debeer, Przemko Tylzanowski, and Nathalie Brison
- H. Junctions, Transporters, and Channels
  - 211 GJA1 (Connexin 43) and the Oculodentodigital Syndrome Rebecca J. Richardson and Michael J. Dixon
  - 212 KCNJ2 and the Andersen-Tawil Syndrome David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, and Louis J. Ptáček
  - 213 ANKH and Craniometaphyseal Dysplasia Uwe Korank, Peter Nürnberg, and Sigrid Tinschert
VII Dysmorphic Disease Genes of Unknow Function or Unclassified
- 214 Role of EVC and EVC2 in Ellis–van Creveld Syndrome and Weyers Acrofacial Dysostosis Marzena M. Galdzicka, Janice A. Egeland, and Edward I. Ginns
- 215 P450 Oxidoreductase Deficiency and Antley-Bixler Syndrome Walter L. Miller
- 216 TRIM37 and Mulibrey Nanism Kaisa Kettunen, Niklas Karlberg, Susann Karlberg, Hannu Jalanko, Marita Lipsanen-Nyman, and Anna-Elina Lehesjoki
- 217 KIAA1279 and Goldberg-Shprintzen Syndrome Alice S. Brooks and Robert M. W. Hofstra
- 218 GLMN and Glomuvenous Malformation Pascal Brouillard, Laurence M. Boon, and Miikka Vikkula
- 219 The Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations David A. Mcdonald and Douglas A. Marchuk
- 220 Proteus Syndrome Leslie G. Biesecker
- 221 Microphthalmia 9 (PDAC) Julie Plaisancie and Nicolas Chassaing
- 222 Ichthyosis Prematurity Syndrome Joakim Klarjürgen Kohlhase, Anders Vahlqvist, and Niklas Dahl
- 223 Microphthalmia With Linear Skin Lesions (MLS) Syndrome: An Unconventional Mitochondrial Disorder Alessia Indrieri and Brunella Franco
- 224 Mutations in SCARF2 Are Responsible for the Van Den Ende–Gupta Syndrome (VDEGS) Loydie A. Jerome-Majewska
End Matter

Oxford University Press

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 01 June 2020

Browse All

Browse All

Browse All

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.)

Edited by Robert P. Erickson and Anthony J. Wynshaw-Boris

Abstract

Bibliographic Information

Authors

Contents