Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel...

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Detalles Bibliográficos
Autores principales: Yoneda, Akira, Okada, Kazuya, Okubo, Hitoshi, Matsuo, Mitsutoshi, Kishikawa, Hiroki, Naing, Banyar Than, Watanabe, Atsushi, Shimada, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: May, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049028/
https://www.ncbi.nlm.nih.gov/pubmed/24932165
http://dx.doi.org/10.1159/000363373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049028/
https://www.ncbi.nlm.nih.gov/pubmed/24932165
http://dx.doi.org/10.1159/000363373

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