ENAM mutations and digenic inheritance
Abstract Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective. Methods Whole exome sequences of recruited AI probands were initially screened fo...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-10-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.928 |