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

Autor: Vieira, Gustavo H1, Rodriguez, Jayson D2, Carmona-Mora, Paulina3, Cao, Lei4, Gamba, Bruno F5, Carvalho, Daniel R5, de Rezende Duarte, Andréa6, Santos, Suely R7, de Souza, Deise H5, DuPont, Barbara R8, Walz, Katherina9, Moretti-Ferreira, Danilo5, Srivastava, Anand K8
Zdroj: European Journal of Human Genetics. Feb2012, Vol. 20 Issue 2, p148-154. 7p. 1 Black and White Photograph, 2 Charts, 3 Graphs.
Databáze: Academic Search Ultimate