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Article

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.

European journal of human genetics : EJHG - 1 Feb 2021

Lima Cunha Dulce, Owen Nicholas, Tailor Vijay, Corton Marta, Theodorou Maria, Moosajee Mariya

Abstract excerpt

PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding paired domain of PAX6 are usually associated with non-aniridia phenotypes like microphthalmia, coloboma or isolated foveal hypoplasia. In...

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Source

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Identifiers

PMID: 33024313
DOI: 10.1038/s41431-020-00737-1
PMCID: PMC7868363

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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