Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey-Reference-Cited by-同舟云学术

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Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Published:2010-06-25 Issue:7 Volume:152A Page:1641-1653
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rohatgi Sarika,Clark Dinah,Kline Antonie D.,Jackson Laird G.,Pie Juan,Siu Victoria,Ramos Feliciano J.,Krantz Ian D.,Deardorff Matthew A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33441/fullpdf

Reference20 articles.

1. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes;Allanson;J Med Genet,1997

2. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience;Bhuiyan;J Med Genet,2005

3. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations;Borck;Hum Mutat,2007

4. 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

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

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