IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report
Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes COL1A1 and COL1A2, other genes such as IFITM5 have also been associated with the disease, accounting for up to 5 %...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-06-01
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| Series: | Bone Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187224000330 |