Resultats de la cerca - Laville, Jean-Marc

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    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

    Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome per Cartault, François, Munier, Patrick, Jacquemont, Marie-Line, Vellayoudom, Jeannine, Doray, Bérénice, Payet, Christine, Randrianaivo, Hanitra, Laville, Jean-Marc, Munnich, Arnold, Cormier-Daire, Valérie

    Publicat 2015
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