Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing

ABSTRACT Background Amelogenesis imperfecta (AI) is a rare genetic disorder causing tooth enamel defects. AI has been classified into 14 different clinical subtypes with different modes of inheritance. In this study, we performed whole‐exome sequencing to identify the causative gene defect in a larg...

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Bibliographic Details
Main Authors: Rick Kamps, Herm Martens, Bart deKoning, Bert Smeets, Michel vanGeel
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Amelogenesis imperfecta
autosomal dominant
FAM83H
hypocalcification
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.70108
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