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Article

Anirdia-like phenotype caused by 6p25 dosage aberrations.

American journal of medical genetics. Part A - 1 Mar 2015

Sadagopan Karthikeyan Arcot, Liu Grace T, Capasso Jenina E, Wuthisiri Wadakarn, Keep Rosanne B, Levin Alex V

Abstract excerpt

Axenfeld-Rieger spectrum (ARS) includes the anterior segment abnormalities posterior embryotoxon, irido-corneal adhesions, corectopia, and other abnormalities of pupil size and shape. Glaucoma occurs in approximately 50% of affected children. It is often caused by mutations of FOXC1 or PITX2. Timing of expression and dosage of these transcription factors appear to be very critical in the development of the...

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Topics

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Share to Abnormalities, Multiple
Share to Aniridia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 6

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Share to Forkhead Transcription Factors

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Source

Identifiers

PMID: 25691405
DOI: 10.1002/ajmg.a.36890

Genes

FOXC1
PAX6
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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