Log in to save to my catalogue

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Phenotypic manifestations of copy number variation in chromosome 16p13.11

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3061988

Phenotypic manifestations of copy number variation in chromosome 16p13.11

About this item

Full title

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Publisher

Cham: Springer International Publishing

Journal title

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.280-286

Language

English

Formats

Publication information

Publisher

Cham: Springer International Publishing

More information

Scope and Contents

Contents

The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although some of these CNVs are clearly pathogenic, the phenotypic consequences of others, such as those in 16p13.11 remain unclear. Whereas deletions of 16p13.11 have been associated with multiple cong...

Alternative Titles

Full title

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3061988

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3061988

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2010.184

How to access this item