NovelFREM1mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome-Reference-Cited by-同舟云学术

NovelFREM1mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

Published:2013-02-08 Issue:3 Volume:161 Page:473-478
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nathanson Jared,Swarr Daniel T.,Singer Amihood,Liu Mochi,Chinn Amy,Jones Wendy,Hurst Jane,Khalek Nahla,Zackai Elaine,Slavotinek Anne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

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2. An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations;Al-Gazali;Clin Dysmorphol,2002

3. Postmortum lung weight/body weight standards for preterm and term infants;De Paepe;Pediatr Pulmonol,2005

4. Micro-ablepharon of the upper eyelids and vaginal atresia;Fryns;Genet Counsel,2001

5. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects;Kiyozumi;Proc Natl Acad Sci USA,2006

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