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Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with a broad clinical spectrum that can overlap with Ehlers–Danlos syndrome (EDS). To date, patients with both OI and EDS have rarely been reported. In the present study, we investigated a family with four members, one healthy i...
Shranjeno v:
| izdano v: | Biosci Rep |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Portland Press Ltd.
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6658722/ https://ncbi.nlm.nih.gov/pubmed/31239369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20181409 |
| Oznake: |
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