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" Ciliopathies : "


Document Type : BL
Record Number : 624552
Doc. No : dltt
Title & Author : Ciliopathies : : a reference for clinicians /\ editors, Thomas D. Kenny, Philip L. Beales
Page. NO : 282 pages ;; 25 cm
ISBN : 9780199658763 (hardback)
: : 0199658765 (hardback)
Bibliographies/Indexes : Includes bibliographical references and index
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. 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 which range from Alström Syndrome to Usher Syndrome. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of the features of the ciliopathy, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: A reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, ophthalmology, genetics and paediatrics, and non-clinical researchers interested in cilia biology. Book jacket
Subject : Cilia and ciliary motion
Subject : Genetic disorders
Subject : Genetics, Medical
Subject : Genetic Diseases, Inborn-- genetics
Dewey Classification : ‭616.042‬
Added Entry : Kenny, Thomas D.
: Beales, Philip L.
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