Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 2; peer review: 2 approved]
Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at Sa...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2023-10-01
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| Series: | F1000Research |
| Subjects: | |
| Online Access: | https://f1000research.com/articles/12-603/v2 |