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Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
BACKGROUND: The vascular type of Ehlers–Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers–Danlos syndrome causes severe fragility of connective tissues with arterial...
Shranjeno v:
| izdano v: | J Med Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5088665/ https://ncbi.nlm.nih.gov/pubmed/27799058 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1087-0 |
| Oznake: |
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