Mutations in EZH2 Cause Weaver Syndrome-Reference-Cited by-同舟云学术

Mutations in EZH2 Cause Weaver Syndrome

Published:2012-01 Issue:1 Volume:90 Page:110-118
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gibson William T.,Hood Rebecca L.,Zhan Shing Hei,Bulman Dennis E.,Fejes Anthony P.,Moore Richard,Mungall Andrew J.,Eydoux Patrice,Babul-Hirji Riyana,An Jianghong,Marra Marco A.,Chitayat David,Boycott Kym M.,Weaver David D.,Jones Steven J.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly;Weaver;J. Pediatr.,1974

2. Autosomal dominant inheritance of Weaver syndrome;Fryer;J. Med. Genet.,1997

3. Weaver syndrome: Autosomal dominant inheritance of the disorder;Proud;Am. J. Med. Genet.,1998

4. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes;Douglas;Am. J. Hum. Genet.,2003

5. Spectrum of NSD1 mutations in Sotos and Weaver syndromes;Rio;J. Med. Genet.,2003

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