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Article

Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.

Journal of dental research - 1 Dec 2016

Prasad M K, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A

Abstract excerpt

Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense...

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PMID: 27558265
DOI: 10.1177/0022034516663200

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