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

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...

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Bibliographic Details
Published in:J Med Case Rep
Main Authors: Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
Format: Artigo
Language:Inglês
Published: BioMed Central 2016
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5088665/
https://ncbi.nlm.nih.gov/pubmed/27799058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1087-0
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