Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

Published:2006-07-15 Issue:14 Volume:140A Page:1531-1541
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yan Jiong,Saifi Gulam Mustafa,Wierzba Tomasz H.,Withers Marjorie,Bien-Willner Gabriel A.,Limon Janusz,Stankiewicz Paweł,Lupski James R.,Wierzba Jolanta

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

2. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

3. PEST sequences in calmodulin-binding proteins

4. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

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