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

• Main Authors: Xia Zhang (Author), Yanjie Fan (Author), Xiaomin Liu (Author), Ming-Ang Zhu (Author), Yu Sun (Author), Hui Yan (Author), Yunjuan He (Author), Xiantao Ye (Author), Xuefan Gu (Author), Yongguo Yu (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...