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Gene That Causes Joubert Syndrome Discovered, Sainte-Justine University Hospital Research Center Study


5/11/2012 7:27:01 AM

History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals. The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the Centre of Excellence in Neuromics of Université de Montréal (CENUM).

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