The clinical significance of small copy number variants in neurodevelopmental disorders

BACKGROUND: Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs <500 kb has not been well elucidated in a clinical context. METHODS: By high-resolution chromosomal microarray...

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Detalles Bibliográficos
Autores principales: Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Genome-Wide Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173859/
https://www.ncbi.nlm.nih.gov/pubmed/25106414
http://dx.doi.org/10.1136/jmedgenet-2014-102588

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