Discovery of a debilitating genetic syndrome

Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome. In a study published today in the online version of PLoS Genetics, and in the December edition, a research team led by Dr. Patrick Cossette, from the Université de Montréal Hospital Research Centre (CRCHUM) and Associate Professor, Université de Montréal (U de M), has demonstrated that this syndrome is caused by a newly found mutation in the AP1S1 gene.

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