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Article

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

American journal of medical genetics. Part A - 1 Dec 2013

Ababneh Farouq K, AlSwaid Abdulrahman, Youssef Talaat, Al Azzawi Manaf, Crosby Andrew, AlBalwi Mohammed A

Abstract excerpt

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well...

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Source

Identifiers

PMID: 24039075
DOI: 10.1002/ajmg.a.36160

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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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