Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene

Abstract Background Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Intestinal perforation is one of the fatal manifestations of this syndrome, and its management is complicated. Case presentation...

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Bibliographic Details
Main Authors: Taichi Horino, Yuji Miyamoto, Mayuko Ohuchi, Katsuhiro Ogawa, Naoya Yoshida, Takatoshi Ishiko, Chieko Kukinaka, Rumi Sasaki, Takashi Ohba, Hideo Baba
Format: Article
Language:English
Published: Japan Surgical Society 2023-05-01
Series:Surgical Case Reports
Subjects:
Ehlers-Danlos syndrome
Autosomal dominant
Intestinal perforation
Online Access:https://doi.org/10.1186/s40792-023-01643-6
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