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Article

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

In vivo (Athens, Greece) - 1 Jan 2000

Su Pen-Hua, Yu Ju-Shan, Wu Yu-Zhen, Tsai Yu-Shen, Lo Fu-Sung, Lin Ju-Li, Chao Mei-Chyn, Hsu Chia-Chi, Ke Yu-Yuan, Chiu Pao-Chin, Chen Jo-Ching, Huang Ying-Hua, Lin Shuan-Pei, Chou Yen-Yin, Ting Wei-Hsin, Wang Shuo-Yu, Chiu Chiao-Fan, Huang Yen-Chun, Hsiao Hui-Pin, Lin Chao-Hsu, Wang Chung-Hsing, Bau DA-Tian, Lin Ching-Yuang

Abstract excerpt

BACKGROUND/AIM: X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, results from loss-of-function mutations in the phosphate-regulating PHEX gene. Elevated fibroblast growth factor 23 (FGF23) contributes to hypophosphatemia in XLH. This study aimed to characterize PHEX variants and serum FGF23 profiles in Taiwanese patients with XLH. PATIENTS AND METHODS: We retrospectively reviewed the...

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Identifiers

PMID: 38148081
DOI: 10.21873/invivo.13444
PMCID: PMC10756449

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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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