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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.
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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PubType: Academic Journal
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Diler+Durgut+B%22">Diler Durgut B</searchLink>; Department of Pediatric Neurology, Giresun University, Giresun, Turkey.<br /><searchLink fieldCode="AU" term="%22Türkyılmaz+A%22">Türkyılmaz A</searchLink>; Department of Medical Genetics, Karadeniz Technical University, Trabzon, Turkey.
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  Data: <searchLink fieldCode="JN" term="%229511374%22">Neurocase</searchLink> [Neurocase] 2026 Apr; Vol. 32 (2), pp. 76-79. <i>Date of Electronic Publication: </i>2026 Apr 14.
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  Data: Journal Article; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Routledge%22">Routledge </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9511374 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1465-3656 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213554794%22">13554794 </searchLink><i>NLM ISO Abbreviation: </i>Neurocase <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41979576
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      – Type: doi
        Value: 10.1080/13554794.2026.2659031
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      – Code: eng
        Text: English
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        StartPage: 76
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      – TitleFull: 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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            NameFull: Diler Durgut B
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            NameFull: Türkyılmaz A
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            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
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              Value: 1465-3656
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              Value: 32
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