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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960053/
https://www.ncbi.nlm.nih.gov/pubmed/24689074
http://dx.doi.org/10.1002/mgg3.48

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