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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Päätekijät: Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science (PLoS) 2011-01-01
Sarja:PLoS ONE
Linkit:http://europepmc.org/articles/PMC3152558?pdf=render
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