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Article

Hereditary cataract associated with a novel variant in WFS1.

Ophthalmic genetics - 1 Oct 2026

Przysiezny Bernardo, Baccega Thais de Melo, Neto Erásio de Grácia, Khalil Hussein Hassan, Cordeiro Lucas Ferreira, Taguchi Felipe Marques de Carvalho, da Palma Mariana Matioli

Abstract excerpt

BACKGROUND: This study describes clinical and genetic findings of a Brazilian four-generation family with hereditary cataracts. MATERIALS AND METHODS: In a large family comprising 31 members, 14 individuals were identified as being affected with hereditary cataracts. Next-generation sequence was undertaken in one affected individual, and subsequent segregation analysis was conducted on his affected sister....

Read the complete abstract on PubMed

Topics

Humans
Cataract
Membrane Proteins
Pedigree
Male
Female
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Mutation

Source

Identifiers

PMID: 41987496
DOI: 10.1080/13816810.2026.2655886

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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