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

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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Bibliographic Details
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
Series:Molecular Genetics & Genomic Medicine
Subjects:
glycosylation
PHEX
whole‐exome sequencing (WES)
X‐Linked hypophosphatemic rickets (XLH)
Online Access:https://doi.org/10.1002/mgg3.1262

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