Article
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
Journal of medical case reports - 31 Oct 2016
Cortini Francesca, Marinelli Barbara, Seia Manuela, De Giorgio Barbara, Pesatori Angela Cecilia, Montano Nicola, Bassotti Alessandra
Abstract excerpt
BACKGROUND: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. CASE PRESENTATION: We present a...
Topics
- Adult
- Collagen Type III
- Ehlers-Danlos Syndrome
- Female
- Genetic Testing
- Humans
- Intestinal Diseases
- Italy
- Mutation