A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.
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| Title: | A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia. |
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| Authors: | Diler Durgut B; Department of Pediatric Neurology, Giresun University, Giresun, Turkey., Türkyılmaz A; Department of Medical Genetics, Karadeniz Technical University, Trabzon, Turkey. |
| Source: | Neurocase [Neurocase] 2026 Apr; Vol. 32 (2), pp. 76-79. Date of Electronic Publication: 2026 Apr 14. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1465-3656 |
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| DOI: | 10.1080/13554794.2026.2659031 |
