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Article

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

Journal of dental research - 1 Mar 2013

Wang S-K, Hu Y, Simmer J P, Seymen F, Estrella N M R P, Pal S, Reid B M, Yildirim M, Bayram M, Bartlett J D, Hu J C-C

Abstract excerpt

Non-syndromic amelogenesis imperfecta (AI) is a collection of isolated inherited enamel malformations that follow X-linked, autosomal-dominant, or autosomal-recessive patterns of inheritance. The AI phenotype is also found in syndromes. We hypothesized that whole-exome sequencing of AI probands showing simplex or recessive patterns of inheritance would identify causative mutations among the known candidate genes...

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Source

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Identifiers

PMID: 23355523
DOI: 10.1177/0022034513475626
PMCID: PMC3576998

Genes

MMP20
KLK4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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