A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family

Abstract Background X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR). XLH is caused by loss‐of‐function mutations in the phosphate‐regulating endopeptidase gene (PHEX) located on the...

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Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Baowei Li, Xiong Wang, Xiaodan Hao, Yanran Liu, Yin Wang, Chan Shan, Xiang Ao, Ying Liu, HongChu Bao, Peifeng Li
Format:	Article
Language:	English
Published:	Wiley 2020-08-01
Subjects:	glycosylation PHEX whole‐exome sequencing (WES) X‐Linked hypophosphatemic rickets (XLH)
Online Access:	https://doi.org/10.1002/mgg3.1262