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Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.

Oral diseases - 1 Mar 2024

Sriwattanapong Kanokwan, Theerapanon Thanakorn, Khamwachirapitak Chompak, Sae-Ear Pannagorn, Srijunbarl Anucharte, Porntaveetus Thantrira, Shotelersuk Vorasuk

Abstract excerpt

OBJECTIVES: To identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI). METHODS: Three patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing. An unerupted permanent third molar (AI1) from Patient1 and a deciduous first molar (AI2) from Patient2, along with three tooth-type matched controls for each...

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PMID: 36650945
DOI: 10.1111/odi.14510

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