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Article

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

Journal of dental research - 1 Jan 2024

Hany U, Watson C M, Liu L, Nikolopoulos G, Smith C E L, Poulter J A, Brown C J, Patel A, Rodd H D, Balmer R, Harfoush A, Al-Jawad M, Inglehearn C F, Mighell A J

Abstract excerpt

Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel formation. Ameloblastin (AMBN), the second most abundant enamel matrix protein (EMP), plays a critical role in amelogenesis. Pathogenic biallelic loss-of-function AMBN variants are known to cause recessive hypoplastic AI. A report of a family with dominant hypoplastic AI attributed to AMBN missense change p.Pro357Ser,...

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Source

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Identifiers

PMID: 38058155
DOI: 10.1177/00220345231203694
PMCID: PMC10734210

Genes

AMBN

Variants

Provenance

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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