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Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

INTRODUCTION: Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the m...

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Detalhes bibliográficos
Main Authors: Kashizaki, Fumihiro, Hatamochi, Atsushi, Kamiya, Kazunori, Yoshizu, Akira, Okamoto, Hiroaki
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567970/
https://ncbi.nlm.nih.gov/pubmed/23374456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-7-35
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