Genomic imbalances defining novel intellectual disability associated loci

Genomic imbalances defining novel intellectual disability associated loci

Abstract Background High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel...

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Bibliographic Details
Main Authors: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CNVs
Neurodevelopment
Genotype-phenotype correlation
CUL4B overexpression
Online Access:http://link.springer.com/article/10.1186/s13023-019-1135-0

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http://link.springer.com/article/10.1186/s13023-019-1135-0

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