Day

December 26, 2021

26
Dec

Chromosome 8p abnormalities studied in a group of individuals

Chromosome 8p abnormalities studied in a group of individuals – 8p deletion, inversions and duplications. The short arm of chromosome 8 includes several low copy repeat regions that predisposes to a┬ánon-allelic homologous recombination. As a result structural abnormalities of this region are much more frequent than for similar size segments...
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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...
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