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Article

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Human molecular genetics - 15 Apr 2014

Poulter James A, Brookes Steven J, Shore Roger C, Smith Claire E L, Abi Farraj Layal, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently pre...

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Share to Amelogenesis Imperfecta
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunoenzyme Techniques

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Source

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Identifiers

PMID: 24319098
DOI: 10.1093/hmg/ddt616
PMCID: PMC3959822

Genes

ITGB6
MMP20

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24319098-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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