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Article

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

American journal of medical genetics. Part A - 1 Dec 2011

Tonoki Hidefumi, Harada Naoki, Shimokawa Osamu, Yosozumi Ayako, Monzaki Kadomi, Satoh Kohei, Kosaki Rika, Sato Atsushi, Matsumoto Naomichi, Iizuka Susumu

Abstract excerpt

Clinical phenotypes of and genetic aberrations in three unrelated Japanese patients with Axenfeld-Rieger anomalies and various accompanying malformations of systemic organs are described. GTG-banded chromosome analysis showed terminal deletions of the short arm of chromosome 6 in two patients and an inversion, inv(6)(p25q14), in the other. FISH and DNA array analyses revealed that the two patients with deletions...

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Source

Identifiers

PMID: 22009788
DOI: 10.1002/ajmg.a.33858

Genes

FOXC1
PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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