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EBOOK
Author Kenny, Thomas D.
Title Ciliopathies : a reference for clinicians.
Imprint [Oxford] : Oxford University Press, 2013.

Author Kenny, Thomas D.
Subject Cilia and ciliary motion.
Genetic disorders.
Otorhinolaryngologic Diseases.
Cell Surface Extensions.
Disease Attributes
Biology.
Respiratory Tract Diseases.
Medicine.
Pathologic Processes.
Disease.
Cellular Structures.
Biological Science Disciplines.
Health Occupations.
Pathological Conditions, Signs and Symptoms
Natural Science Disciplines.
Disciplines and Occupations
Cells.
Anatomy.
Cilia.
Ciliary Motility Disorders.
Rare Diseases.
Genetics.
Pathology.
Alt Name Beales, Philip L.
Description 1 online resource (301 pages)
Note Print version record.
Bibliography Note Includes bibliographical references and index.
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.
Note English.
Online resource; title from home page (viewed on October 7, 2013).
ISBN 0199658765
9780199658763
1299966748
9781299966741
9780191633362
0191633364
OCLC # 990593605
Additional Format Print version: 9781299966741



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