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Article

Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family.

Journal of dental research - 1 Dec 2003

Wang Y, Zhao H, Zhang X, Feng H

Abstract excerpt

Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides...

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Source

Identifiers

PMID: 14630904
DOI: 10.1177/154405910308201214

Genes

PITX2
FOXC1
PAX6

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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