CZ:Ref:DOI:10.1086/425985

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Dixon-Salazar, T.; J.L. Silhavy & S.E. Marsh et al. (2004), "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria", The American Journal of Human Genetics 75 (6): 979–987, DOI:10.1086/425985 [e]