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Article

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

Eye (London, England) - 1 Aug 2022

Berry Vanita, Ionides Alex, Pontikos Nikolas, Moore Anthony T, Quinlan Roy A, Michaelides Michel

Abstract excerpt

BACKGROUND: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. METHODS: Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics...

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Identifiers

PMID: 34345029
DOI: 10.1038/s41433-021-01711-x
PMCID: PMC9307513

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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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