عنوان

Ciliopathies :

(Number (ISBN

0199658765 (hardback)

(Number (ISBN

9780199658763 (hardback)

Number

dltt

Title Proper

Ciliopathies :

General Material Designation

[Book]

Other Title Information

a reference for clinicians /

First Statement of Responsibility

editors, Thomas D. Kenny, Philip L. Beales

Specific Material Designation and Extent of Item

282 pages ;

Dimensions

25 cm

Text of Note

Includes bibliographical references and index

Text of Note

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

Cilia and ciliary motion

Genetic disorders

Genetic Diseases, Inborn-- genetics

Genetics, Medical

Number

Edition

Beales, Philip L.

Kenny, Thomas D.

Date of Transaction

20131126082825.0

Cataloguing Rules (Descriptive Conventions))

rda

Electronic name

[Book]

Y