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Article

X-linked hypophosphatemic rickets caused by a de novo PHEX gene variation in a family.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jun 2021

Zhang Yuhai, Zhang Xian, Fang Tuanyu, Quan Huibiao, Chen Kaining, Sheng Zhifeng

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The treatment is more complicated compared with the general rickets. A family were admitted to the Department of Endocrinology, Hainan General Hospital in 2018. The proband was a 3-year-6-month-old female, Han nationality. She was admitted to hospitalization for bilateral...

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Identifiers

PMID: 34275936
DOI: 10.11817/j.issn.1672-7347.2021.200072
PMCID: PMC10930202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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