A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Rare Diseases
2024-10-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.009 |
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