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...
Kaydedildi:
| Yazar: | |
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| Materyal Türü: | Artigo |
| Dil: | Chinês |
| Baskı/Yayın Bilgisi: |
Editorial Office of Journal of Clinical Pediatrics
2026-05-01
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| Seri Bilgileri: | Linchuang erke zazhi |
| Konular: | |
| Online Erişim: | https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1778223623214-20894692.pdf |
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