A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report
Abstract Background Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome...
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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2025-09-01
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| Seri Bilgileri: | Journal of Medical Case Reports |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13256-025-05332-w |
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