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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Detalles Bibliográficos
Autores principales: Kashizaki, Fumihiro, Hatamochi, Atsushi, Kamiya, Kazunori, Yoshizu, Akira, Okamoto, Hiroaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567970/
https://www.ncbi.nlm.nih.gov/pubmed/23374456
http://dx.doi.org/10.1186/1752-1947-7-35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567970/
https://www.ncbi.nlm.nih.gov/pubmed/23374456
http://dx.doi.org/10.1186/1752-1947-7-35

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