Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
Abstract
Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the matrix metallopeptidase 20 (MMP20) gene that were predicted to be pathogenic. MMP20 encodes a protease that cleaves the developing extracellular enamel matrix and is necessary for normal enamel...
Paper Details
Title
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
Published Date
Mar 6, 2021
Journal
Volume
42
Issue
5
Pages
567 - 576
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