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Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation
Ehlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyp...
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| Publicat a: | Glob Med Genet |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Georg Thieme Verlag KG
2020
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| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7938939/ https://ncbi.nlm.nih.gov/pubmed/33693443 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0041-1722873 |
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