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Article

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.

Human molecular genetics - 3 Jun 2020

Smith Claire E L, Whitehouse Laura L E, Poulter James A, Wilkinson Hewitt Laura, Nadat Fatima, Jackson Brian R, Manfield Iain W, Edwards Thomas A, Rodd Helen D, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

Amelogenesis is the process of enamel formation. For amelogenesis to proceed, the cells of the inner enamel epithelium (IEE) must first proliferate and then differentiate into the enamel-producing ameloblasts. Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective or absent tooth enamel. We identified a 2 bp variant c.817_818GC>AA in SP6, the gene encoding the SP6...

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Identifiers

PMID: 32167558
DOI: 10.1093/hmg/ddaa041
PMCID: PMC7268548

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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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