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Article

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.

Molecular genetics & genomic medicine - 1 Jul 2026

Vitanova Kristiyana, Kamenarova Kunka, Veleva-Krasteva Nevyana, Mihova Kalina, Kaneva Yoanna, Tzveova Reni, Georgiev Martin, Georgiev Delyan, Dimova Ivanka, Oscar Alexander, Kaneva Radka

Abstract excerpt

BACKGROUND: Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment, usually present at an early age. Both syndromic and non-syndromic congenital cataracts exhibit all modes of inheritance and may occur in association with various ocular or systemic abnormalities. Early diagnosis and treatment are crucial for the visual prognosis. METHODS: We applied...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42360812
DOI: 10.1002/mgg3.70255
PMCID: PMC13308658

Genes

CACNA1S
CRYAA
CRYBB1
MYH9
RP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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