21
Jul
Cardiomyopathy and the PRDM16 gene
0 Comment
Cardiomyopathy and the PRDM16 gene and its relationship to cardiac phenotypes. Dilated cardiomyopathy (DCM) is a frequent manifestation in patients with 1p36 deletion syndrome. However, it is not clear which of multiple genes in this region are responsible for DCM. Loss of function (LoF) variants in the PRDM16 gene have... Read More
26
Dec
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... Read More
