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Noonan syndrome and related disorder...

Zenker, Martin.

Noonan syndrome and related disordersa matter of deregulated ras signaling /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Noonan syndrome and related disordersvolume editor, Martin Zenker.
Reminder of title:	a matter of deregulated ras signaling /
other author:	Zenker, Martin.
Published:	Basel :S. Karger,2009
Description:	1 online resource :ill. (some col.)
Notes:	From basic molecular research to clinical practice
Subject:	Genetic disorders.
Online resource:	http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019
ISBN:	9783805586542

Noonan syndrome and related disordersa matter of deregulated ras signaling /
Noonan syndrome and related disordersa matter of deregulated ras signaling /[electronic resource] :volume editor, Martin Zenker. - Basel :S. Karger,2009 - 1 online resource :ill. (some col.) - Monographs in human genetics,v.171662-3835 ;. - Monographs in human genetics ;v.17..

From basic molecular research to clinical practice

Includes bibliographical references and indexes.

In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.

ISBN: 9783805586542Subjects--Topical Terms:

224987
Genetic disorders.

LC Class. No.: RB155.5 / .N66 2009

Dewey Class. No.: 616/.042

National Library of Medicine Call No.: W1 / MO567P v.17 2009

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