Genomic profile of copy number variants on the short arm of human chromosome 8
Genomic profile of copy number variants on the short arm of human chromosome 8
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal d...
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Full title
Genomic profile of copy number variants on the short arm of human chromosome 8
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987457
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987457
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2010.66