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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Main Authors: | Rick Kamps, Herm Martens, Bart deKoning, Bert Smeets, Michel vanGeel |
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Format: | Article |
Language: | English |
Published: |
Wiley
2025-06-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.70108 |
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