First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Endocrinology Research Centre
2020-02-01
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| Series: | Остеопороз и остеопатии |
| Subjects: | |
| Online Access: | https://osteo-endojournals.ru/osteo/article/viewFile/12103/pdf |