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Article

New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.

Gene - 1 Jul 2013

Braghini Carolina Ayumi, Neshich Izabella Agostinho Pena, Neshich Goran, Soardi Fernanda Caroline, de Mello Maricilda Palandi, Costa Vital Paulino, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbosa

Abstract excerpt

Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally...

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Identifiers

PMID: 23566828
DOI: 10.1016/j.gene.2013.02.054

Genes

MYOC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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