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Article

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Human molecular genetics - 1 Aug 2009

Wang Ying, Groppe Jay C, Wu Jingfeng, Ogawa Takuya, Mues Gabriele, D'Souza Rena N, Kapadia Hitesh

Abstract excerpt

Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. Of the 18 mutations identified to date, eight are phenotypically well-characterized missense mutations within the DNA-binding paired domain. W...

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Source

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Identifiers

PMID: 19429910
DOI: 10.1093/hmg/ddp221
PMCID: PMC2706687

Genes

PAX9
MSX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19429910-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.PMID 19429910Read ↗

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