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Mutation in FKBP10 causes early onset of scoliosis

GSE180838 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2024/07/01 Platform GPL20301
Summary
Scoliosis is a three-dimensional structural deformity of the spine, while the underlying pathogenesis is not fully uncovered. Osteogenesis imperfecta (OI), known as brittle bone disease, is a group of rare genetic disorder associated with osteopenia, deformity and scoliosis. Here we found the mutation in FKBP10 resulted in early onset of scoliosis via deleterious effects on collagen processing and osteoblast differentiation.
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Also filed as BioProject PRJNA749759 and SRA study SRP329912. Searching any of these in the dataset finder brings you back here.

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