Ciliopathies : a reference for clinicians.

By:

Kenny, Thomas D

Contributor(s):

Beales, Philip L

Material type: Text

TextPublisher: [Oxford] : Oxford University Press, 2013Description: 1 online resource (301 pages)Content type:

text

Media type:

computer

Carrier type:

online resource

ISBN:

0199658765
9780199658763
1299966748
9781299966741
9780191633362
0191633364

Subject(s):

Genre/Form:

Electronic books.

Additional physical formats: Print version:: No titleDDC classification:

616.042

LOC classification:

QL369

NLM classification:

2014 A-268
WF 140

Online resources:

Click here to access online

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.

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Holdings
Item type	Home library	Collection	Call number	Materials specified	Status	Date due	Barcode
Electronic-Books	OPJGU Sonepat- Campus	E-Books EBSCO			Available

Print version record.

Includes bibliographical references and index.

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.

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.