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Article

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

BMC medical genomics - 16 Jul 2022

Cao Yixuan, You Yi, Wang Qiong, Ren Xiuzhi, Li Shan, Li Lulu, Xia Weibo, Guan Xin, Yang Tao, Ikegawa Shiro, Wang Zheng, Zhao Xiuli

Abstract excerpt

BACKGROUND: Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most cases of HR. The aim of this study was to identify causative variants in nine unrelated Chinese families associated with HR, and to determine potential...

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Identifiers

PMID: 35842615
DOI: 10.1186/s12920-022-01305-w
PMCID: PMC9287957

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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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