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Article

Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.

The Journal of clinical endocrinology and metabolism - 18 Nov 2024

Ma Xiaosen, Pang Qianqian, Gong Yiyi, Li Xiang, Liu Wei, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo

Abstract excerpt

CONTEXT: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease caused by inactivation mutations in the PHEX gene. Despite the extensive number of reported PHEX variants, only a few cases of chromosomal abnormalities have been documented. OBJECTIVE: We aimed to identify the pathogenic variants in 6 unrelated families with a clinical diagnosis of XLH and to propose a genetic workflow for hypophosphatemia...

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Source

Identifiers

PMID: 38722819
DOI: 10.1210/clinem/dgae299

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.PMID 38722819Read ↗

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.Semantic proximity Read ↗

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing ProgramSemantic proximity Read ↗

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

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.Semantic proximity Read ↗

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)Semantic proximity Read ↗

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

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.Semantic proximity Read ↗

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Novel PHEX mutation associated with hypophosphatemic rickets.Semantic proximity Read ↗

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