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Article

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.

Calcified tissue international - 1 Jan 2021

Ito Nobuaki, Fukumoto Seiji

Abstract excerpt

Congenital diseases that could result in hyperphosphatemia at an early age include hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) and congenital hypoparathyroidism/pseudohypoparathyroidism due to the insufficient activity of fibroblast growth factor (FGF) 23 and parathyroid hormone. HFTC/HHS is a rare autosomal recessive disease caused by inactivating mutations...

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Identifiers

PMID: 31965220
DOI: 10.1007/s00223-020-00659-6

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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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