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Article

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical genetics - 1 Mar 2009

Simpson M A, Scheuerle A, Hurst J, Patton M A, Stewart H, Crosby A H

Abstract excerpt

Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. We recently identified a chromosomal rearrangement and telomeric microdeletion in a patient with Raine syndrome and subsequently identified mutations in the FAM20C gene, located within the deleted region, in six additional Raine syndrome cases. The phenotype of...

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Identifiers

PMID: 19250384
DOI: 10.1111/j.1399-0004.2008.01118.x

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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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