Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis-Reference-Cited by-同舟云学术

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

Published:2012-09-10 Issue:10 Volume:158A Page:2499-2505
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chatfield Kathryn C.,Schrier Samantha A.,Li Jennifer,Clark Dinah,Kaur Maninder,Kline Antonie D.,Deardorff Matthew A.,Jackson Laird S.,Goldmuntz Elizabeth,Krantz Ian D.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35582/fullpdf

Reference18 articles.

1. Descriptive epidemiology of Cornelia de Lange syndrome in Europe;Barisic;Am J Med Genet Part A,2008

2. Mortality, pathological findings and causes of death in the de Lange syndrome;Beck;Acta Paediatr Scand,1985

3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am J Hum Genet,2007

4. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations;Gillis;Am J Hum Genet,2004

5. Sixty-four patients with Brachmann-de Lange syndrome: A survey;Hawley;Am J Med Genet,1985

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