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 BartoliGisèle Bonne, John Vissing, Pascal Laforet, François M Petit

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Medicin og biovidenskab