chromosome 6q25.1 deletion


6q25.1 Deletion

6q25.1 Deletion Deletions of the 6q25.1 region of the long arm of chromosome 6 constitute a specific syndrome. The main findings of this condition are defects of cardiac valves caused by the loss of the TAB2 gene, which is located in this segment. The protein encoded by the TAB2 gene...
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TAB2 deletions and variants chromosome 6q25.1

TAB2 deletions and variants located at chromosome 6q25.1. Traditionally the loss of the TAB2 gene, located at 6q25.1, is linked to heart problems (cardiomyopathy and congenital heart defects). The authors report 11 previously non-described patients with deletions of 6q25 involving TAB2 and compare their manifestations to 25 patients known from...
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