Ciliopathies : a reference for clinicians / edited by Thomas D. Kenny, Philip L. Beales.

Format:

Book

Contributor:

Kenny, Thomas D.

Beales, Philip L.

Language:

English

Subjects (All):

Cilia and ciliary motion.

Genetic disorders.

Physical Description:

1 online resource (301 p.)

Edition:

First edition.

Place of Publication:

Oxford : Oxford University Press, 2014.

Language Note:

English

Summary:

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. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians.The book 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 descr

Contents:

Cover; Contents; List of abbreviations; Gene list; List of contributors; 1 Towards the diagnosis of a ciliopathy; 2 Alström syndrome; 3 Jeune syndrome and the ciliary chondrodysplasias; 4 Joubert syndrome and Joubert syndrome-related disorders; 5 Bardet-Biedl syndrome; 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathies; 7 Meckel-Gruber syndrome; 8 Nephronophthisis; 9 Oral-facial-digital type I syndrome; 10 Autosomal dominant polycystic kidney disease; 11 Autosomal recessive polycystic kidney disease; 12 Primary ciliary dyskinesia; 13 Usher syndrome

14 Syndromes not yet proven to be ciliopathiesIndex; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; R; S; T; U; V; W

Notes:

Description based upon print version of record.

Includes bibliographical references and index.

Description based on online resource; title from PDF title page (ebrary, viewed November 2, 2013).

Description based on publisher supplied metadata and other sources.

ISBN:

0-19-163337-2

0-19-176332-2

0-19-163336-4

OCLC:

859835550