COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
BackgroundOsteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive d...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Surgery |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fsurg.2022.986372/full |