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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles by Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Published 2018-03-01
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P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis by Camille Tremblay-Laganière, Sophie Ehresmann, Alina Levtova, Julie Gauthier, He Fu, Robert McEvilly, Michael Rosenfeld, Elisabeth Simard-Tremblay, Isabelle DeBie, Jean-Francois Soucy, Jacques Michaud, Emmanuelle Lemyre, Philippe Campeau
Published 2023-01-01
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