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Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The syndrome is primarily ascribed to a ∼3.7 Mb de novo deletion on chromosome 17p11.2. Haploinsufficiency of multiple genes likely underlies the complex clinical phenotype. RAI1 (Retin...

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Detalles Bibliográficos
Autores principales:	Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K., Cox, Gerald F., Deshpande, Charu, Introne, Wendy J., Gahl, William A., Smith, Ann C. M., Huizing, Marjan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152558/ https://www.ncbi.nlm.nih.gov/pubmed/21857958 http://dx.doi.org/10.1371/journal.pone.0022861

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