Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.
Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...
Researchers used whole genome microarray genotyping on 272 bicuspid aortic valve patients with early onset valve or aortic disease and 272 biological relatives. They analyzed all copy number ...
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