A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and o...

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Detalles Bibliográficos
Autores principales: Zhang, Xia, Fan, Yanjie, Liu, Xiaomin, Zhu, Ming-Ang, Sun, Yu, Yan, Hui, He, Yunjuan, Ye, Xiantao, Gu, Xuefan, Yu, Yongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878345/
https://www.ncbi.nlm.nih.gov/pubmed/30630810
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878345/
https://www.ncbi.nlm.nih.gov/pubmed/30630810
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0220

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