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Article

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation.

International journal of audiology - 1 Apr 2007

Bamiou Doris-Eva, Campbell Nicole G, Musiek Frank E, Taylor Rachael, Chong W K, Moore Anthony, van Heyningen Veronica, Free Samantha, Sisodiya Sanjay, Luxon Linda M

Abstract excerpt

PAX6 encodes a transcriptional regulator that is essential for brain morphogenesis. Heterozygous PAX6 mutation is associated with aniridia and abnormalities of the interhemispheric pathway in humans. We present the case of a 12 year old boy with a known mutation of the PAX6 gene. There were parental concerns regarding his hearing, but repeated pure-tone audiograms were normal. He had a battery of standard central...

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

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Source

Identifiers

PMID: 17454233
DOI: 10.1080/14992020601175952

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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