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

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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Bibliographic Details
Main Authors: Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yongguo Yu
Format: Article
Language:English
Published: Galenos Yayincilik 2019-12-01
Series:JCRPE
Subjects:
borjeson-forssman-lehmann syndrome
phf6
x-inactivation
growth hormone deficiency
rhgh treatment
hypogonadism
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-nonsense-mutation-of-iphf6-i-in-a-female-w/21289

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-nonsense-mutation-of-iphf6-i-in-a-female-w/21289

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