A case report of Chediak-Higashi syndrome
Objective To explore the clinical characteristics and genetic features of Chediak-Higashi syndrome. Methods Trio whole-exome sequencing (trio-WES) was performed to identify the pathogenic gene variant. The clinical data of the child were summarized, and the clinical and genetic characteristics were...
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| Автор: | |
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| Формат: | Artigo |
| Мова: | Chinês |
| Опубліковано: |
Editorial Office of Journal of Clinical Pediatrics
2026-05-01
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| Серія: | Linchuang erke zazhi |
| Предмети: | |
| Онлайн доступ: | https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1778223623214-20894692.pdf |
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