Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion
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چکیده
منابع مشابه
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) in a cohort of 510 NIPBL sequence-negative patients with suspected CdLS. Copy number analysis was...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2013
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.48