Genomic imbalances defining novel intellectual disability associated loci

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 genetic...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R., Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M., Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, Patrícia
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6612161/
https://ncbi.nlm.nih.gov/pubmed/31277718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1135-0
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