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Article

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.

Cold Spring Harbor molecular case studies - 1 Jan 2022

Buehne Kristen L, Hart Sarah, Williams Bradley, Cohen Jennifer L

Abstract excerpt

Variants in the PAX6 gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular findings are also reported among these family members. After a congenital cataracts next-generation sequencing (NGS) gene panel was found to be nondiagnostic in 2016, a more...

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Identifiers

PMID: 34893493
DOI: 10.1101/mcs.a006149
PMCID: PMC8744493

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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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