Clinical utility gene card for: Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Clinical utility gene card for: Cornelia de Lange syndrome

Published:2014-12-24 Issue:10 Volume:23 Page:1431-1431
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ramos Feliciano J,Puisac Beatriz,Baquero-Montoya Carolina,Gil-Rodríguez Ma Concepción,Bueno Inés,Deardorff Matthew A,Hennekam Raoul C,Kaiser Frank J,Krantz Ian D,Musio Antonio,Selicorni Angelo,FitzPatrick David R,Pié Juan

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014270.pdf

Reference26 articles.

1. Tonkin ET, Smith M, Eichhorn P et al: A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet 2004; 115: 139–148.

2. Krantz ID, McCallum J, DeScipio C et al: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36: 631–635.

3. Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC : High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013; 50: 339–344.

4. Castronovo P, Delahaye-Duriez A, Gervasini C et al: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet 2010; 78: 560–564.

5. Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A : Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013; 34: 1589–1596.

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