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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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2013
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| Matèries: | |
| Accés en línia: | 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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