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

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: A 58-ye...

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Detalles Bibliográficos
Autores principales: Horino, Taichi, Miyamoto, Yuji, Ohuchi, Mayuko, Ogawa, Katsuhiro, Yoshida, Naoya, Ishiko, Takatoshi, Kukinaka, Chieko, Sasaki, Rumi, Ohba, Takashi, Baba, Hideo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182206/
https://www.ncbi.nlm.nih.gov/pubmed/37171638
http://dx.doi.org/10.1186/s40792-023-01643-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182206/
https://www.ncbi.nlm.nih.gov/pubmed/37171638
http://dx.doi.org/10.1186/s40792-023-01643-6

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