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Article

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2013

Rafaelsen Silje Hjorth, Raeder Helge, Fagerheim Anne Kristine, Knappskog Per, Carpenter Thomas O, Johansson Stefan, Bjerknes Robert

Abstract excerpt

Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X-linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia...

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Source

Identifiers

PMID: 23325605
DOI: 10.1002/jbmr.1850

Genes

FGF23
DMP1
PHEX

Provenance

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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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.PMID 23325605Read ↗

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Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in MiceSemantic proximity Read ↗

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.Semantic proximity Read ↗

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic ricketsSemantic proximity Read ↗

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.Semantic proximity Read ↗

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.Semantic proximity Read ↗

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