A novel homozygous c.257del variant in a Chinese family with Nasu–Hakola disease: A case study and literature review
Nasu–Hakola disease is a rare autosomal recessive disorder characterized by progressive cognitive decline and bone cyst formation and is commonly associated with triggering receptor expressed on myeloid cells 2 ( TREM2 ) variants. Herein, we report a novel TREM2 frameshift variant in a middle-aged m...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
SAGE Publishing
2026-06-01
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| Col·lecció: | Journal of International Medical Research |
| Accés en línia: | https://doi.org/10.1177/03000605261456056 |
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