GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report

Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family m...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Zhengyi, Li, Yuchi, Zhao, Zengxia, Hu, Jun, Tong, Xiaoxin, Chen, Xuhui, Liu, Shuyun, Xu, Xiaonan, Tao, Yongjun, Wang, Tingting, Cheng, Xin, Dai, Yangyang, Gui, Yaoting, Wu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403265/
https://www.ncbi.nlm.nih.gov/pubmed/28454448
http://dx.doi.org/10.3892/ol.2017.5791

Ejemplares similares

Ejemplares similares