Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

doi:10.1073/pnas.1110905108

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Article

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Proceedings of the National Academy of Sciences of the United States of America - 15 Nov 2011

Farrow Emily G, Yu Xijie, Summers Lelia J, Davis Siobhan I, Fleet James C, Allen Matthew R, Robling Alexander G, Stayrook Keith R, Jideonwo Victoria, Magers Martin J, Garringer Holly J, Vidal Ruben, Chan Rebecca J, Goodwin Charles B, Hui Siu L, Peacock Munro, White Kenneth E

Abstract excerpt

Autosomal dominant hypophosphatemic rickets (ADHR) is unique among the disorders involving Fibroblast growth factor 23 (FGF23) because individuals with R176Q/W and R179Q/W mutations in the FGF23 (176)RXXR(179)/S(180) proteolytic cleavage motif can cycle from unaffected status to delayed onset of disease. This onset may occur in physiological states associated with iron deficiency, including puberty and pregnancy....

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Identifiers

PMID: 22006328
DOI: 10.1073/pnas.1110905108
PMCID: PMC3219119

Genes

FGF23

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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