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Article

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Molecular genetics and genomics : MGG - 1 Jul 2020

Nitayavardhana Issree, Theerapanon Thanakorn, Srichomthong Chalurmpon, Piwluang Sakkayaphab, Wichadakul Duangdao, Porntaveetus Thantrira, Shotelersuk Vorasuk

Abstract excerpt

Amelogenesis imperfecta type IG (AI1G) is caused by mutations in FAM20A. Genotypic and phenotypic features of AI1G are diverse and their full spectra remain to be characterized. The aim of this study was to identify and summarize variants in FAM20A in a broad population of patients with AI1G. We identified a Thai female (Pt-1) and a Saudi male (Pt-2) affected with AI1G. Both had hypoplastic enamel, gingival...

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Identifiers

PMID: 32246227
DOI: 10.1007/s00438-020-01668-8

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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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