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Osteogenesis imperfecta, type 18
rareOsteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).
- Identifiers
- MONDO:0044329 OMIM:617952
- Causal genes
- TENT5A
- Also known as
- OI18
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