Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
在具有 Smith-Magenis 综合征特征的患者中检测经典的 17p11.2 缺失、非典型缺失和 RAI1 变异
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/ejhg.2011.167
Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba, Daniel R Carvalho, Andréa de Rezende Duarte, Suely R Santos, Deise H de Souza, Barbara R DuPont, Katherina Walz, Danilo Moretti-Ferreira, Anand K Srivastava
