16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2–p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability,...

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Detalhes bibliográficos
Main Authors: Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark, White, Helen
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548261/
https://ncbi.nlm.nih.gov/pubmed/22828807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.144
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