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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.1 (AUTHOR) betuldlr@hotmail.com, Türkyılmaz, A.2 (AUTHOR)
Source: Neurocase (Taylor & Francis Ltd). Apr2026, Vol. 32 Issue 2, p76-79. 4p.
Database: Academic Search Ultimate
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ISSN:13554794
DOI:10.1080/13554794.2026.2659031