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Article

Mutational analysis of patients with FGF23-related hypophosphatemic rickets.

European journal of endocrinology - 1 Aug 2012

Kinoshita Yuka, Saito Tasuku, Shimizu Yuichiro, Hori Michiko, Taguchi Manabu, Igarashi Takashi, Fukumoto Seiji, Fujita Toshiro

Abstract excerpt

OBJECTIVE: X-linked hypophosphatemic rickets (XLHR) caused by mutations in the PHEX gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic rickets. In previous studies, mutations in the PHEX gene were detected in 60-70% of patients with clinical diagnoses of XLHR. This leads to the question whether current screening methods for mutations in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22577109
DOI: 10.1530/EJE-12-0071

Genes

PHEX
FGF23

Provenance

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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Mutational analysis of patients with FGF23-related hypophosphatemic rickets.PMID 22577109Read ↗

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

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.Semantic proximity Read ↗

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Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant TraitSemantic proximity Read ↗

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