Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can e...
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Format: | Članak |
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Editorial Office of Journal of Rare Diseases
2023-10-01
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Serija: | 罕见病研究 |
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Online pristup: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.004 |