Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth-Reference-Cited by-同舟云学术

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Published:2011-07 Issue:1 Volume:89 Page:148-153
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hanson Dan,Murray Philip G.,O'Sullivan James,Urquhart Jill,Daly Sarah,Bhaskar Sanjeev S.,Biesecker Leslie G.,Skae Mars,Smith Claire,Cole Trevor,Kirk Jeremy,Chandler Kate,Kingston Helen,Donnai Dian,Clayton Peter E.,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. The 3-M syndrome: a heritable low birthweight dwarfism;Miller;Birth Defects Orig. Artic. Ser.,1975

2. 3-M syndrome: description of six new patients with review of the literature;van der Wal;Clin. Dysmorphol.,2001

3. 3-M syndrome: a report of three Egyptian cases with review of the literature;Temtamy;Clin. Dysmorphol.,2006

4. Identification of mutations in CUL7 in 3-M syndrome;Huber;Nat. Genet.,2005

5. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia;Maksimova;J. Med. Genet.,2007

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