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.

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report

F. Cortini
Primo
;
B. Marinelli
Secondo
;
B. De Giorgio;A.C. Pesatori;N. Montano
Penultimo
;
2016-10-31

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.
COL3A1 gene; Ehlers–Danlos syndrome vascular type; HaloPlex Target Enrichment; Next-generation sequencing; Sanger sequencing
Settore MED/44 - Medicina del Lavoro
Settore MED/03 - Genetica Medica
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/450046
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