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Article

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Nature genetics - 1 Feb 1994

Hanson I M, Fletcher J M, Jordan T, Brown A, Taylor D, Adams R J, Punnett H H, van Heyningen V

Abstract excerpt

Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of evidence now converge to implicate PAX6 more widely in anterior segment malformations including Peters' anomaly. First, a child with Peters' anomaly is deleted for one copy of PAX6. Second, affected members of a family with dominantly inherited anterior segment malformations, including Peters' anomaly are heterozygous for an...

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Source

Identifiers

PMID: 8162071
DOI: 10.1038/ng0294-168

Genes

PAX6

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.PMID 8162071Read ↗

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Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.Semantic proximity Read ↗

PAX6 and congenital eye malformations.Semantic proximity Read ↗

Clinical and molecular aspects of aniridia.Semantic proximity Read ↗

Clinical and molecular aspects of congenital aniridia - A review of current concepts.Semantic proximity Read ↗

The human PAX6 gene is mutated in two patients with aniridia.Semantic proximity Read ↗

Mouse small eye results from mutations in a paired-like homeobox-containing gene.Semantic proximity Read ↗

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities.Semantic proximity Read ↗

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.Semantic proximity Read ↗

Eye anomalies and neurological manifestations in patients with PAX6 mutations.Semantic proximity Read ↗

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