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Article

FAM20A mutations associated with enamel renal syndrome.

Journal of dental research - 1 Jan 2014

Wang S K, Reid B M, Dugan S L, Roggenbuck J A, Read L, Aref P, Taheri A P H, Yeganeh M Z, Simmer J P, Hu J C-C

Abstract excerpt

We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C;...

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Identifiers

PMID: 24196488
DOI: 10.1177/0022034513512653
PMCID: PMC3865794

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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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