Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTA...
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
About this item
Full title
Author / Creator
Campbell, Ian M. , Yatsenko, Svetlana A. , Hixson, Patricia , Reimschisel, Tyler , Thomas, Matthew , Wilson, William , Dayal, Usha , Wheless, James W. , Crunk, Amy , Curry, Cynthia , Parkinson, Nicole , Fishman, Leona , Riviello, James J. , Nowaczyk, Malgorzata J.M. , Zeesman, Susan , Rosenfeld, Jill A. , Bejjani, Bassem A. , Shaffer, Lisa G. , Cheung, Sau Wai , Lupski, James R. , Stankiewicz, Pawel and Scaglia, Fernando
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype–phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking.
We mapped breakpoints of 10 patients with 9q34.11 deletions using high-resolution 9q34-specific array comparative genomic hybridization (...
Alternative Titles
Full title
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
Authors, Artists and Contributors
Author / Creator
Yatsenko, Svetlana A.
Hixson, Patricia
Reimschisel, Tyler
Thomas, Matthew
Wilson, William
Dayal, Usha
Wheless, James W.
Crunk, Amy
Curry, Cynthia
Parkinson, Nicole
Fishman, Leona
Riviello, James J.
Nowaczyk, Malgorzata J.M.
Zeesman, Susan
Rosenfeld, Jill A.
Bejjani, Bassem A.
Shaffer, Lisa G.
Cheung, Sau Wai
Lupski, James R.
Stankiewicz, Pawel
Scaglia, Fernando
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3713627
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3713627
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2012.65
