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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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Zhang, Xia, Fan, Yanjie, Liu, Xiaomin, Zhu, Ming-Ang, Sun, Yu, Yan, Hui, He, Yunjuan, Ye, Xiantao, Gu, Xuefan, Yu, Yongguo
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878345/
https://ncbi.nlm.nih.gov/pubmed/30630810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0220
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