NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations-Reference-Cited by-同舟云学术

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Published:2004-10 Issue:4 Volume:75 Page:610-623
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gillis Lynette A.,McCallum Jennifer,Kaur Maninder,DeScipio Cheryl,Yaeger Dinah,Mariani Allison,Kline Antonie D.,Li Hui-hua,Devoto Marcella,Jackson Laird G.,Krantz Ian D.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Familial occurrence of Brachmann-de Lange syndrome;Bankier;Am J Med Genet,1986

2. Familial de Lange syndrome: report of three cases in a sibship;Beratis;Clin Genet,1971

3. Male-to-male transmission of mild Brachmann-de Lange syndrome;Chodirker;Am J Med Genet,1994

4. Sur un type nouveau de dégénération (typus Amstelodamnesis) [On a new type of degeneration (type Amstelodamnesis)];de Lange;Arch Méd Enfants,1933

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