Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Genetics research - 1 Jan 2024
Nunes Natalia, Carvalho Nunes Beatriz, Zamariolli Malú, Cordeiro de Queiroz Soares Diogo, Caires Dos Santos Leonardo, Gollo Dantas Anelisa, Ayres Meloni Vera, Iole Belangero Sintia, Gil-Da-Silva-Lopes Vera Lúcia, Ae Kim Chong, Melaragno Maria Isabel
Abstract excerpt
22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS cohort (60 patients), we investigated genetic variants that could act as genetic modifiers and contribute to the phenotypic heterogeneity, using a targeted NGS (Next...
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