X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

doi:10.1002/jbmr.3955

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Article

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2020

Smith Pamela S, Gottesman Gary S, Zhang Fan, Cook Fiona, Ramirez Beatriz, Wenkert Deborah, Wollberg Valerie, Huskey Margaret, Mumm Steven, Whyte Michael P

Abstract excerpt

X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we...

Topics

Adolescent
Adult
Case-Control Studies
Child
Child, Preschool
Familial Hypophosphatemic Rickets
Female
Fibroblast Growth Factor-23
Fibroblast Growth Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypophosphatemia

Male

Middle Aged

Mutation

PHEX Phosphate Regulating Neutral Endopeptidase

Retrospective Studies

Young Adult

Source

Open in PubMed

Identifiers

PMID: 31910300
DOI: 10.1002/jbmr.3955

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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