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RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

Smith–Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retin...

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Detalles Bibliográficos
Autores principales:	Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680963/ https://www.ncbi.nlm.nih.gov/pubmed/29138588 http://dx.doi.org/10.2147/TACG.S128455

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