Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

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 variant...

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Main Authors: Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Genetics Research
Online Access:http://dx.doi.org/10.1155/2024/5549592
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http://dx.doi.org/10.1155/2024/5549592

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