Article
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
European journal of human genetics : EJHG - 1 Feb 2012
Vieira Gustavo H, Rodriguez Jayson D, Carmona-Mora Paulina, Cao Lei, Gamba Bruno F, Carvalho Daniel R, de Rezende Duarte Andréa, Santos Suely R, de Souza Deise H, DuPont Barbara R, Walz Katherina, Moretti-Ferreira Danilo, Srivastava Anand K
Abstract excerpt
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have...
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