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Article

Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.

Eye (London, England) - 1 Jun 2017

Zhang R, Linpeng S, Wei X, Li H, Huang Y, Guo J, Wu Q, Liang D, Wu L

Abstract excerpt

PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time...

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Identifiers

PMID: 28157223
DOI: 10.1038/eye.2016.326
PMCID: PMC5518831

Genes

PAX6

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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