Genomic deletions on 16p11.2 associated with severe obesity in Brazil.

doi:10.3389/fendo.2024.1495534

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Article

Genomic deletions on 16p11.2 associated with severe obesity in Brazil.

Frontiers in endocrinology - 1 Jan 2024

da Silva Assis Izadora Sthephanie, Salum Kaio Cezar Rodrigues, Felício Rafaela de Freitas Martins, Palhinha Lohanna, de Medeiros Abreu Gabriella, Silva Tamara, Mattos Fernanda Cristina Carvalho, Rosado Eliane Lopes, Zembrzuski Verônica Marques, Campos Junior Mario, Maya-Monteiro Clarissa Menezes, Cabello Pedro Hernán, Carneiro João Regis Ivar, Bozza Patrícia Torres, da Fonseca Ana Carolina Proença

Abstract excerpt

Introduction: Genetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes. Method: The sample...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39897959
DOI: 10.3389/fendo.2024.1495534
PMCID: PMC11781945

Genes

SH2B1

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