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Noonan syndrome and related disorder...

Zenker, Martin.

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Noonan syndrome and related disorders = a matter of deregulated ras signaling /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Noonan syndrome and related disorders/ volume editor, Martin Zenker.{me_controlnum}
其他題名:	a matter of deregulated ras signaling /
其他作者:	Zenker, Martin.
出版者:	Basel :S. Karger, : 2009,
面頁冊數:	1 online resource :ill. (some col.)
附註:	From basic molecular research to clinical practice
標題:	Genetic disorders. -
電子資源:	http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019
ISBN:	9783805586542

Noonan syndrome and related disorders = a matter of deregulated ras signaling /
Noonan syndrome and related disordersa matter of deregulated ras signaling /[electronic resource] :volume editor, Martin Zenker.{me_controlnum} - 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:

750480
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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