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Article

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

The Journal of clinical endocrinology and metabolism - 13 Aug 2024

Wu Huixiao, Ying Hui, Zhao Wanyi, Sun Yan, Wang Yanzhou, Chen Xinyu, Li Guimei, Yao Yangyang, Xu Shuo, Li Tianyou, Fang Li, Sun Xiaoqing, Wang Ning, Xu Jin, Guan Qingbo, Xia Weibo, Wang Li, Gao Ling, Zhao Jiajun, Xu Chao

Abstract excerpt

BACKGROUND: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype relationship of XLHR and the pathogenic role of PHEX are not fully understood. METHODS: In this study, we summarized clinical features in a new cohort of 49 HR patients and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38442738
DOI: 10.1210/clinem/dgae120
PMCID: PMC11318995

Genes

PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.PMID 38442738Read ↗

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