Ehlers-Danlos syndrome vascular type

Definition:

Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.

References:

[1]. Dominique P Germain, et al. Vascular Ehlers-Danlos syndrome. Ann Genet. 2004 Jan-Mar;47(1):1-9. [Content Brief]

[2]. Fransiska Malfait, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. [Content Brief]

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