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Article

Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

Endocrinology - 1 Sept 2005

Larsson Tobias, Davis Siobhan I, Garringer Holly J, Mooney Sean D, Draman Mohamad S, Cullen Michael J, White Kenneth E

Abstract excerpt

Familial tumoral calcinosis (TC, OMIM 211900) is a heritable disorder characterized by hyperphosphatemia, normal or elevated serum 1,25-dihydroxyvitamin D, and often severe ectopic calcifications. Two recessive mutations in fibroblast growth factor-23 (FGF23), serine 71/glycine (S71G) and serine 129/phenylalanine (S129F), were identified as causing TC. Herein, we undertook comprehensive biochemical analyses of an...

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Source

Identifiers

PMID: 15961556
DOI: 10.1210/en.2005-0431

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.PMID 15961556Read ↗

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