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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Nathalie Streichenberger, Maud Beuvin, Martin Krahn, Philippe Petiot, Frédéric Parisot, Fabrice Michel, Edoardo Malfatti, Norma Romero, Robert Yves Carlier, Bruno Eymard, Philippe Labrune, Morten Duno, Thomas Krag, Mathieu Cerino, Marc Bartoli