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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987457

Genomic profile of copy number variants on the short arm of human chromosome 8

About this item

Full title

Genomic profile of copy number variants on the short arm of human chromosome 8

Publisher

Cham: Springer International Publishing

Journal title

European journal of human genetics : EJHG, 2010-10, Vol.18 (10), p.1114-1120

Language

English

Formats

Publication information

Publisher

Cham: Springer International Publishing

More information

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...

Alternative Titles

Full title

Genomic profile of copy number variants on the short arm of human chromosome 8

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2010.66

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