Article

Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with <i>MMP20</i>

2020-07-24

Abstract excerpt

Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of ten families with recessive hypomaturation AI revealed 4 novel and 1 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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c093dfe0-5887-5e4d-afd2-2a0990fa6b9f
DOI: 10.1101/2020.07.23.217927

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with <i>MMP20</i>DOI 10.1101/2020.07.23.217927Read

Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.Semantic proximity Read

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.Semantic proximity Read

Dental malformations associated with biallelic MMP20 mutations.Semantic proximity Read

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target LociSemantic proximity Read

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classificationSemantic proximity Read

Alteration of Exon Definition Causes Amelogenesis Imperfecta.Semantic proximity Read

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.Semantic proximity Read

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.Semantic proximity Read

ACP4 Variants In Hypoplastic Amelogenesis ImperfectaSemantic proximity Read

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.Semantic proximity Read

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.Semantic proximity Read

Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.Semantic proximity Read