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Article

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Clinical genetics - 1 Aug 2011

Fradin Melanie, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B

Abstract excerpt

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first cas...

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Identifiers

PMID: 20825432
DOI: 10.1111/j.1399-0004.2010.01516.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20825432-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.PMID 20825432Read ↗

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