chromosome 2q32 deletion

2q32 Deletion (Vascular Ehlers-Danlos Syndrome) Deletions of 2q32 are not very common, but individuals may present with the well characterized Vascular Ehlers-Danlos Syndrome (vEDS). vEDS is caused by mutations in the COL3A1 gene, which is located within the 2q32 region1. There are several key characteristics of vEDS including vascular and... Read More