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Book Cover
E-book
Author Kenny, Thomas D.

Title Ciliopathies : a reference for clinicians
Published [Oxford] : Oxford University Press, 2013
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Description 1 online resource (301 pages)
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
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
Bibliography Includes bibliographical references and index
Notes English
Online resource; title from home page (viewed on October 7, 2013)
Print version record
Subject Cilia and ciliary motion.
Genetic disorders.
Anatomy.
Biological Science Disciplines.
Biology.
Cell Surface Extensions.
Cells.
Cellular Structures.
Cilia.
Ciliary Motility Disorders.
Disciplines and Occupations
Disease Attributes
Disease.
Genetics.
Health Occupations.
Medicine.
Natural Science Disciplines.
Otorhinolaryngologic Diseases.
Pathologic Processes.
Pathological Conditions, Signs and Symptoms
Pathology.
Rare Diseases.
Respiratory Tract Diseases.
Cilia and ciliary motion.
Genetic disorders.
HEALTH & FITNESS -- Diseases -- General.
MEDICAL -- Clinical Medicine.
MEDICAL -- Diseases.
MEDICAL -- Evidence-Based Medicine.
MEDICAL -- Internal Medicine.
Form Electronic book
Author Beales, Philip L.
ISBN 0191633364
0199658765
1299966748
9780191633362
9780199658763
9781299966741