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Portrait of rare hereditary diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean

Speaker: Dr.听Tania Cruz-Marino,听MD, PhD

Medical Geneticist, Divisions of Medical Genetics, Departments of Specialized Medicine, MUHC and JGH

Medical Geneticist, Associate member, Medical Genetics Service, CIUSSS Saguenay-Lac-Saint-Jean

Assistant Professor, Department of Human Genetics, 看片视频 University

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At the end of the presentation, the audience will be able:

1. To describe the clinical and molecular characteristics of hereditary diseases that are recurrent in the Saguenay-Lac-Saint-Jean region of Quebec

   2. To illustrate the carrier frequency of these diseases in Saguenay-Lac-Saint-Jean

   3. To recognize the role of provincial screening strategies in the prevention of these conditions

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