A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.
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| Title: | A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review. |
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| Authors: | Liu Q; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, China.; Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, China.; State Key Laboratory of Transvascular Implantation Devices, China., Lin RR; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, China., Gao PR; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, China.; Department of Neurology, Shaoxing People's Hospital, China., Chen DF; Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, China.; Department of Medical Genetics and Center for Rare Diseases, The Second Affiliated Hospital, Zhejiang University School of Medicine, China., Li HL; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, China.; Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, China.; State Key Laboratory of Transvascular Implantation Devices, China. |
| Source: | The Journal of international medical research [J Int Med Res] 2026 Jun; Vol. 54 (6), pp. 3000605261456056. Date of Electronic Publication: 2026 Jun 18. |
| Publication Type: | Journal Article; Case Reports; Review |
| Journal Info: | Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1473-2300 |
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| DOI: | 10.1177/03000605261456056 |
