25
May
2q33.1 deletion and SATB2 gene mutation or deletion
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Newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. The symptoms of SAS include developmental... Read More
25
May
1p35 deletion and PUM1 mutation
1p35 deletion and PUM1 mutation discussed in a newly published article. Development of the nervous system is a complex process that is tightly regulated by protein levels and expression. One protein involved in this process is produced by a gene PUM1, located in 1p35, a region within the short arm... Read More