Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by growth retardation, intellectual disability, upper limb abnormalities, hirsutism, and characteristic facial features. In this study we explored the occurrence of intragenic NIPBL copy number variations (CNVs)...

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Detalhes bibliográficos
Main Authors: Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals, Inc. 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3960053/
https://ncbi.nlm.nih.gov/pubmed/24689074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.48
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