A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Abstract Trp3 allele in COL9A3 gene has been widely studied in populations with intervertebral disc disease. We identified a novel pathogenic variant in COL9A3 gene in a pedigree with multiple lumbar disc herniation (LDH). The proband was a 14-year-old boy who developed LDH at the L4/5 and L5/S1 spi...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-01-01
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| Series: | Journal of Orthopaedic Surgery and Research |
| Online Access: | https://doi.org/10.1186/s13018-023-04481-2 |