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Article

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

PloS one - 1 Jan 2012

Wang Shih-Kai, Chan Hui-Chen, Makovey Igor, Simmer James P, Hu Jan C-C

Abstract excerpt

Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2. Mutations in...

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Source

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Identifiers

PMID: 23227268
DOI: 10.1371/journal.pone.0051533
PMCID: PMC3515487

Genes

PAX9
DSPP
AXIN2
EDA
MSX1

Variants

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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