Article

Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked Hypophosphatemia

2026-05-04

Abstract excerpt

<title>Abstract</title> <p> X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, characterized by renal phosphate wasting, hypophosphatemia, impaired vitamin D metabolism, and defective bone mineralization. XLH is caused by loss-of-function mutations in the <italic>PHEX</italic> gene (phosphate-regulating endopeptidase homolog, X-linked), which encodes a cell-surface endopeptidase pred...

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Literature Corpus work: daa5ed1e-4e3c-50ed-90e7-95fc60350d10
DOI: 10.21203/rs.3.rs-9495431/v1

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