Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

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 encompasse...

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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260931/
https://ncbi.nlm.nih.gov/pubmed/21897445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.167
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