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Article

Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families.

Calcified tissue international - 4 May 2026

Resende Kemelly Karolliny, Amorim Luanna de Sousa, de Paula Lilian Marly, Leite André Ferreira, Mazzeu Juliana Forte, Yamaguti Paulo Marcio, Acevedo Ana Carolina

Abstract excerpt

Amelogenesis Imperfecta (AI) is a group of rare hereditary conditions characterized by quantitative and/or qualitative enamel defects affecting both primary and permanent dentitions. Among the more than 70 genes associated with AI, FAM83H is the only gene known to cause autosomal dominant hypocalcified AI (ADHCAI). Recent studies have shown that causative variants in FAM83H disrupt amelogenesis and may also...

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PMID: 42081114
DOI: 10.1007/s00223-026-01540-8
PMCID: PMC13139228

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Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families.PMID 42081114Read ↗

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The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.Semantic proximity Read ↗

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