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

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Greenberg F, Guzzetta V, Montes de Oca-Luna R et al: Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991; 49: 1207–1218.

2. Smith ACM, Magenis RE, Elsea SH : Overview of Smith-Magenis syndrome. J Assoc Genet Technol 2005; 31: 163–167.

3. Elsea SH, Girirajan S : Smith-Magenis syndrome. Eur J Hum Genet 2008; 16: 412–421.

4. Smith ACM, Boyd K, Elsea SH et al: Smith-Magenis Syndrome; in: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Seattle: Copyright, University of Washington, 1997–2010.

5. Dykens EM, Finucane BM, Gayley C : Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord 1997; 27: 203–211.

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