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Article

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

American journal of human genetics - 13 May 2011

O'Sullivan James, Bitu Carolina C, Daly Sarah B, Urquhart Jill E, Barron Martin J, Bhaskar Sanjeev S, Martelli-Júnior Hercilio, dos Santos Neto Pedro Eleuterio, Mansilla Maria A, Murray Jeffrey C, Coletta Ricardo D, Black Graeme C M, Dixon Michael J

Abstract excerpt

Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified a homozygous nonsense mutation in exon 2...

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Identifiers

PMID: 21549343
DOI: 10.1016/j.ajhg.2011.04.005
PMCID: PMC3146735

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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