Phenotypic manifestations of copy number variation in chromosome 16p13.11
Phenotypic manifestations of copy number variation in chromosome 16p13.11
About this item
Full title
Author / Creator
Nagamani, Sandesh C Sreenath , Erez, Ayelet , Bader, Patricia , Lalani, Seema R , Scott, Daryl A , Scaglia, Fernando , Plon, Sharon E , Tsai, Chun-Hui , Reimschisel, Tyler , Roeder, Elizabeth , Malphrus, Amy D , Eng, Patricia A , Hixson, Patricia M , Kang, Sung-Hae L , Stankiewicz, Pawel , Patel, Ankita and Cheung, Sau Wai
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
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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
Authors, Artists and Contributors
Author / Creator
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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
