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Article

Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

Ophthalmic research - 1 Jan 2000

Phillips Jeffrey C

Abstract excerpt

Mutational screening and sequence analysis of the PITX2 gene was performed in four families previously diagnosed with Rieger syndrome. The results of this analysis identified four novel mutations within the coding sequence of PITX2. These mutations were not identified in the sequence of 50 control individuals. Two mutations were found in the homeobox and would be expected to result in nonconservative amino acid...

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Source

Identifiers

PMID: 12381896
DOI: 10.1159/000065602

Genes

PITX2

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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