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Article

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX Gene.

Human mutation - 1 Jan 2026

Li Dongmei, Peng Wan, Kang Lu, Geng Jia, Lu Yu, Lu Jing

Abstract excerpt

X-linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth. Here, we report a 2-year-old boy diagnosed with XLH, presenting with short stature, genu varum, and hypophosphatemia. Sanger...

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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: 42079344
DOI: 10.1155/humu/3376327
PMCID: PMC13129501

Genes

PHEX
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX Gene.PMID 42079344Read ↗

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