Ciliopathies: A reference for clinicians

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Ciliopathies: A reference for clinicians

Edited by Thomas D. Kenny and Philip L. Beales

Abstract

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. This resource provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis.

Bibliographic Information

Publisher:: Oxford University Press

Print Publication Date:: Sep 2013

Print ISBN-13:: 9780199658763

Published online:: Oct 2013

DOI:: 10.1093/med/9780199658763.001.0001

Authors

Thomas D. Kenny, editor Medical Adviser, NHS Specialised Services, UK

Philip L. Beales, editor Professor of Medical and Molecular Genetics, UCL Institute of Child Health, London, UK

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Front Matter
Chapter 1 Towards the diagnosis of a ciliopathyPhilip L. Beales and Thomas D. Kenny
Chapter 2 Alström syndromeRichard Paisey
Chapter 3 Jeune syndrome and the ciliary chondrodysplasiasMiriam Schmidts
Chapter 4 Joubert syndrome and Joubert syndrome-related disordersVictoria Harrison and Andrea H. Németh
Chapter 5 Bardet–Biedl syndromePhilip L. Beales and Elizabeth Forsythe
Chapter 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathiesThomas D. Kenny, Philip L. Beales and Ronald Roepman
Chapter 7 Meckel–Gruber syndromeGabrielle Wheway and Colin A. Johnson
Chapter 8 NephronophthisisShalabh Srivastava and John A. Sayer
Chapter 9 Oral–facial–digital type I syndromeBrunella Franco
Chapter 10 Autosomal dominant polycystic kidney diseaseRichard Sandford
Chapter 11 Autosomal recessive polycystic kidney diseaseCarsten Bergmann
Chapter 12 Primary ciliary dyskinesiaClaire Hogg
Chapter 13 Usher syndromeMaria Bitner-Glindzicz and Zubin Saihan
Chapter 14 Syndromes not yet proven to be ciliopathiesKate Baker
End Matter
- Index

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date: 01 March 2021

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Ciliopathies: A reference for clinicians

Edited by Thomas D. Kenny and Philip L. Beales

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Ciliopathies: A reference for clinicians

Edited by Thomas D. Kenny and Philip L. Beales

Abstract

Bibliographic Information

Authors

Share Link

Contents