Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients-Reference-Cited by-同舟云学术

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

Published:2016-05-10 Issue:2 Volume:172 Page:206-213
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mariani Milena,Decimi Valentina,Bettini Laura Rachele,Maitz Silvia,Gervasini Cristina,Masciadri Maura,Ajmone Paola,Kullman Gaia,Dinelli Marco,Panceri Roberto,Cereda Anna,Selicorni Angelo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. The behavioural phenotype of Cornelia de Lange Syndrome. A study of 56 individuals;Basile;J Intellect Disabil Res,2007

2. 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

3. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle;Deardorff;Nature,2012a

4. RAD21 mutations cause a human cohesinopathy;Deardorff;Am J Hum Genet,2012b

5. De Lange syndrome: A clinical review of 310 individuals;Jackson;Am J Med Genet,1993

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