Paper

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

Published May 13, 2011 · DOI · J. O’Sullivan, C. Bitu, Sarah B. Daly

American journal of human genetics

164

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Abstract

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Rigorous JournalHighly Cited

Study Snapshot

FAM20A mutations may contribute to the pathogenesis of amelogenesis imperfecta and gingival hyperplasia syndrome, suggesting potential therapeutic targets for these conditions.

PopulationOlder adults (50-71 years)

Sample size24

MethodsObservational

OutcomesBody Mass Index projections

ResultsSocial networks mitigate obesity in older groups.

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

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