A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations-Reference-Cited by-同舟云学术

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Published:2013-10-09 Issue:5 Volume:22 Page:644-651
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Santos-Rebouças Cíntia Barros,Belet Stefanie,Guedes de Almeida Luciana,Ribeiro Márcia Gonçalves,Medina-Acosta Enrique,Bahia Paulo Roberto Valle,Alves da Silva Antônio Francisco,Lima dos Santos Flávia,Borges de Lacerda Glenda Corrêa,Pimentel Márcia Mattos Gonçalves,Froyen Guy

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013216.pdf

Reference31 articles.

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5. Al-Owain M, Kaya N, Al-Zaidan H et al: Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet 2011; 79: 363–370.

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