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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Päätekijät:	Rick Kamps, Herm Martens, Bart deKoning, Bert Smeets, Michel vanGeel
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Wiley 2025-06-01
Sarja:	Molecular Genetics & Genomic Medicine
Aiheet:	Amelogenesis imperfecta autosomal dominant FAM83H hypocalcification whole‐exome sequencing
Linkit:	https://doi.org/10.1002/mgg3.70108
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