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Article

Identification of a dominant negative homeodomain mutation in Rieger syndrome.

The Journal of biological chemistry - 22 Jun 2001

Saadi I, Semina E V, Amendt B A, Harris D J, Murphy K P, Murray J C, Russo A F

Abstract excerpt

Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome. Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities. PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan. The PITX2 homeodomain has a lysine at position 50,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11301317
DOI: 10.1074/jbc.M008592200

Genes

PITX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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