A number sign (#) is used with this entry because vascular-type Ehlers-Danlos syndrome (EDSVASC) is caused by heterozygous mutation in the COL3A1 gene (120180) on chromosome 2q32.
Biallelic mutation in the COL3A1 gene causes polymicrogyria with or without vascular EDS (PMGVEDS; 618343).
From OMIM:
A number sign (#) is used with this entry because vascular-type Ehlers-Danlos syndrome (EDSVASC) is caused by heterozygous mutation in the COL3A1 gene (120180) on chromosome 2q32.
Biallelic mutation in the COL3A1 gene causes polymicrogyria with or without vascular EDS (PMGVEDS; 618343).