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Article

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Molecular medicine reports - 1 Aug 2018

Syrimis Andreas, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Nicolaou Michael, Loukianou Eleni, Sismani Carolina, Malas Stavros, Christophidou-Anastasiadou Violetta, Tanteles George A

Abstract excerpt

The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29901133
DOI: 10.3892/mmr.2018.9126
PMCID: PMC6072148

Genes

PAX6
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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