Tag

2q33.1 deletion

18
Mar

2q33.1 microdeletion and SATB2 gene

2q33.1 microdeletion and the SATB2 gene – phenotypic effects. Deletions of 2q33.1 involving the SATB2 gene are relatively rare. This disorder is known also as Glass syndrome. Only 33 cases of this condition have been reported previously. The authors report 17 new patients and provide a detailed analysis of all...
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25
May

2q33.1 deletion and SATB2 gene mutation or deletion

      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...
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