Mutations in PIK3R1 Cause SHORT Syndrome-Reference-Cited by-同舟云学术

Mutations in PIK3R1 Cause SHORT Syndrome

Published:2013-07 Issue:1 Volume:93 Page:158-166
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dyment David A.,Smith Amanda C.,Alcantara Diana,Schwartzentruber Jeremy A.,Basel-Vanagaite Lina,Curry Cynthia J.,Temple I. Karen,Reardon William,Mansour Sahar,Haq Mushfequr R.,Gilbert Rodney,Lehmann Ordan J.,Vanstone Megan R.,Beaulieu Chandree L.,Majewski Jacek,Bulman Dennis E.,O’Driscoll Mark,Boycott Kym M.,Innes A. Micheil

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Malformation syndromes. A selected miscellany;Gorlin;Birth Defects Orig. Artic. Ser.,1975

2. The SHORT syndrome: further delineation and natural history;Lipson;J. Med. Genet.,1989

3. SHORT syndrome;Koenig;Clin. Dysmorphol.,2003

4. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes;Aarskog;Am. J. Med. Genet.,1983

5. Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome;Reardon;Am. J. Med. Genet. A.,2008

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