“MEDNIK:” A Novel Genetic Syndrome

Canadian researchers announce the discovery of MEDNIK, a debilitating genetic syndrome, in a study published December 5 in the open-access journal PLoS Genetics.  The team demonstrates that this syndrome is caused by a newly found mutation in the human AP1S1 gene. Dr. Patrick Cossette and his team discovered MEDNIK syndrome in a group of families in Quebec that share a common ancestor.

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Filed under: Genetics on December 6th, 2008