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Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

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Description scientific article published on 29 August 2016
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author: Imran Ullah  Abdul Nasir  Arnoud Meijer 

Publication date August 29, 2016
Language English
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