A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are caused by mutations in COL1A1 or COL1A2. Recent investigations have discovered several other autosomal recessive genes responsible for OI. Among t...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-12-01
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| Series: | Bone Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187218300494 |