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.
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report / F. Cortini, B. Marinelli, M. Seia, B. De Giorgio, A.C. Pesatori, N. Montano, A. Bassotti. - In: JOURNAL OF MEDICAL CASE REPORTS. - ISSN 1752-1947. - 10:1(2016 Oct 31), p. 303. [10.1186/s13256-016-1087-0]
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report
F. CortiniPrimo
;B. MarinelliSecondo
;B. De Giorgio;A.C. Pesatori;N. MontanoPenultimo
;
2016
Abstract
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.
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