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Article

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia - 1 Jan 2024

Oliveira Flávia Gaona, Rosa-E-Silva Júlio Cesar, Gomes Alexandra Galvão, Grzesiuk Juliana Dourado, Vidotto Thiago, Squire Jeremy Andrew, Panepucci Rodrigo Alexandre, Meola Juliana, Martelli Lúcia

Abstract excerpt

Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two...

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Share to Chromosomes, Human, Pair 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38765507
DOI: 10.61622/rbgo/2024CR12
PMCID: PMC11075382

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