- 88 The Role of <i>Hox</i> and <i>Dlx</i> Gene Clusters in Evolution and Development
- 89 <i>HOXA1</i> Deficiency Syndrome
- 90 <i>HOXA11</i> and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis
- 91 HOXA13 Hand-Foot-Genital Syndrome and Guttmacher Syndrome
- 92 <i>HOXD10</i> Mutations Associated With Congenital Vertical Talus and <i>Pes Cavus</i> Claw-Toe Limb Abnormalities
- 93 <i>HOXD13</i> and Synpolydactyly
- 94 <i>EMX2, HESX1,</i> Type I Schizencephaly, and Septo-Optic Dysplasia
- 95 <i>PDX1</i>, Pancreatic Agenesis, and Type 2 Diabetes
- 96 MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome
- 97 <i>MSX2</i> in Craniosynostosis and Defects of Skull Ossification
- 98 <i>SHOX</i>, Dyschondrosteosis, and Turner Syndrome
- 99 <i>HLXB9 (MNX1)</i>, Sacral Agenesis, and the Currarino Syndrome
- 100 Branchio-Oto-Renal (BOR) Syndrome
- 101 <i>PITX2</i> and <i>PITX3</i>: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment
- 102 <i>NKX2-5</i> and Congenital Heart Disease
- 103 LMX1B and the Nail-Patella Syndrome
- 104 The ALX Homeobox Gene Family and Frontonasal Dysplasias
- 105 Simplex and Complex Microphthalmia Genes—<i>OTX2, RAX, VSX2, VAX1, SIX6</i>, and <i>HMX1</i>
- 106 PRRX1
- 107 Developmental Abnormalities Due to Mutations in the <i>Aristaless</i>-Related Homeobox Gene
- 108 PITX1-Associated Congenital Lower Limb Malformations
(p. 721) Branchio-Oto-Renal (BOR) Syndrome
- Chapter:
- (p. 721) Branchio-Oto-Renal (BOR) Syndrome
- Author(s):
Fowzan S. Alkuraya
and Richard L. Maas
- DOI:
- 10.1093/med/9780199934522.003.0100
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.
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- 88 The Role of <i>Hox</i> and <i>Dlx</i> Gene Clusters in Evolution and Development
- 89 <i>HOXA1</i> Deficiency Syndrome
- 90 <i>HOXA11</i> and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis
- 91 HOXA13 Hand-Foot-Genital Syndrome and Guttmacher Syndrome
- 92 <i>HOXD10</i> Mutations Associated With Congenital Vertical Talus and <i>Pes Cavus</i> Claw-Toe Limb Abnormalities
- 93 <i>HOXD13</i> and Synpolydactyly
- 94 <i>EMX2, HESX1,</i> Type I Schizencephaly, and Septo-Optic Dysplasia
- 95 <i>PDX1</i>, Pancreatic Agenesis, and Type 2 Diabetes
- 96 MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome
- 97 <i>MSX2</i> in Craniosynostosis and Defects of Skull Ossification
- 98 <i>SHOX</i>, Dyschondrosteosis, and Turner Syndrome
- 99 <i>HLXB9 (MNX1)</i>, Sacral Agenesis, and the Currarino Syndrome
- 100 Branchio-Oto-Renal (BOR) Syndrome
- 101 <i>PITX2</i> and <i>PITX3</i>: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment
- 102 <i>NKX2-5</i> and Congenital Heart Disease
- 103 LMX1B and the Nail-Patella Syndrome
- 104 The ALX Homeobox Gene Family and Frontonasal Dysplasias
- 105 Simplex and Complex Microphthalmia Genes—<i>OTX2, RAX, VSX2, VAX1, SIX6</i>, and <i>HMX1</i>
- 106 PRRX1
- 107 Developmental Abnormalities Due to Mutations in the <i>Aristaless</i>-Related Homeobox Gene
- 108 PITX1-Associated Congenital Lower Limb Malformations
