A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone fragility, low bone density, and frequent fractures. Although most cases are associated with mutations in collagen genes (COL1A1 and COL1A2), non-collagen gene mutations, such as those in SP7, have been linked...
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| Main Authors: | , , , |
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| Format: | Conference or Workshop Item |
| Language: | English |
| Published: |
Universitas Gadjah Mada
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/115332/1/115332.pdf http://psasir.upm.edu.my/id/eprint/115332/ |
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