Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features-Reference-Cited by-同舟云学术

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features

Published:2013-08-16 Issue:12 Volume:161 Page:3137-3143
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Izumi Kosuke¹,Housam Ryan²,Kapadia Chirag³,Stallings Virginia A.⁴⁵,Medne Livija⁶,Shaikh Tamim H.⁷,Kublaoui Bassil M.²⁵,Zackai Elaine H.¹⁵,Grimberg Adda²⁵

Affiliation:

1. Division of Human Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Division of Endocrinology and Diabetes; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Endocrinology; Phoenix Children's Hospital; Phoenix Arizona

4. Division of Gastroenterology, Hepatology and Nutrition; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

5. Department of Pediatrics, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

6. Division of Neurology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

7. Department of Pediatrics; University of Colorado School of Medicine; Aurora Colorado

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36149/fullpdf

Reference28 articles.

1. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: Narrowing the critical region for Prader-Willi-like phenotype;Bonaglia;Eur J Hum Genet,2008

2. Prader-Willi syndrome;Cassidy;Genet Med,2012

3. Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif;Castro;Dev Cell,2006

4. Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region;Chrast;Genome Res,1997

5. Endocrine disorders in children with Prader-Willi syndrome-Data from 142 children of the French database;Diene;Horm Res Paediatr,2010

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