Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets

OBJECTIVES: X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most...

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Detalles Bibliográficos
Autores principales: Huang, Jianbo, Bao, Xiaogang, Xia, Wenjun, Zhu, Lingjun, Zhang, Jin, Ma, Jing, Jiang, Nan, Yang, Jichun, Chen, Qing, Jing, Tianrui, Liu, Jia, Ma, Duan, Xu, Guohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Bone Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719531/
https://www.ncbi.nlm.nih.gov/pubmed/31537998
http://dx.doi.org/10.1302/2046-3758.88.BJR-2018-0276.R1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719531/
https://www.ncbi.nlm.nih.gov/pubmed/31537998
http://dx.doi.org/10.1302/2046-3758.88.BJR-2018-0276.R1

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