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Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation

Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embo...

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Detalles Bibliográficos
Autores principales: Sakai, Kosuke, Toda, Maiko, Kyoyama, Hiroyuki, Nishimura, Hiroaki, Kojima, Akitoshi, Kuwabara, Yoshiki, Kobayashi, Yumiko, Kikuchi, Satoshi, Hirata, Yusuke, Moriyama, Gaku, Watanabe, Wataru, Akutsu, Koichi, Nakai, Maki, Yamada, Takeshi, Gemma, Akihiko, Uematsu, Kazutsugu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928492/
https://www.ncbi.nlm.nih.gov/pubmed/31391389
http://dx.doi.org/10.2169/internalmedicine.2983-19