Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

doi:10.1016/j.bone.2021.116135

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Article

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

Bone - 1 Dec 2021

Ishihara Yasuki, Ohata Yasuhisa, Takeyari Shinji, Kitaoka Taichi, Fujiwara Makoto, Nakano Yukako, Yamamoto Kenichi, Yamada Chieko, Yamamoto Katsusuke, Michigami Toshimi, Mabe Hiroyo, Yamaguchi Takeshi, Matsui Katsuyuki, Tamada Izumi, Namba Noriyuki, Yamamoto Akiko, Etoh Junya, Kawaguchi Azusa, Kosugi Rieko, Ozono Keiichi, Kubota Takuo

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) is an inheritable type of rickets caused by inactivating variants in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene, which results in the overproduction of fibroblast growth factor 23 (FGF23). The mechanism by which PHEX impairment leads to FGF23 overproduction is unknown. Because little is known regarding the genotype-phenotype correlation in Japanese...

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PMID: 34333162
DOI: 10.1016/j.bone.2021.116135

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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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