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Article

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

Journal of dental research - 1 Dec 2008

McKnight D A, Simmer J P, Hart P S, Hart T C, Fisher L W

Abstract excerpt

Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC)...

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Source

Open in PubMed Open full text

Identifiers

PMID: 19029076
DOI: 10.1177/154405910808701217
PMCID: PMC2596760

Genes

DSPP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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