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Article

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal of medical genetics - 25 May 2026

Caravello Gaétan, Jiménez-Armijo Alexandra, Kawczynski Marzena, Rey Tristan, Antin Manuela, Roth Alison, Lamouche Jean-Baptiste, Gouronc Aurélie, Alioua Abdelmalek, Schluth-Bolard Caroline, Bloch-Zupan Agnès

Abstract excerpt

BACKGROUND: Variants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). DSPP encodes a precursor protein cleaved into three dentin matrix proteins: dentin sialoprotein (DSP), dentin phosphoprotein/phosphophoryn (DPP) and dentin glycoprotein (DGP). Exon 5 contains over...

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Identifiers

PMID: 41819808
DOI: 10.1136/jmg-2025-111345
PMCID: PMC13217078

Genes

DSPP
DSP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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