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A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report
RATIONALE: We report a case of Spastic paraplegia 8 (SPG8) with a novel mutation of KIAA0196 gene. PATIENTS CONCERNS: A 12-year-old boy presented as ankle sprained, lower limb stiffness, abnormal gait since he was 5 years old. DIAGNOSES: The next generation sequence showed a novel c.1128delG (p.L376...
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| Опубликовано в: : | Medicine (Baltimore) |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer Health
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5976306/ https://ncbi.nlm.nih.gov/pubmed/29768361 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000010760 |
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