Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Mathieu Fusaro, Aline Vincent, Martin Castelle, Jérémie Rosain, Benjamin Fournier, Maria Veiga‐da‐Cunha, Takfarinas Kentache, Jill Serre, Catherine Fallet‐Bianco, Anne‐Lise Delezoide, Laurent Renesme, Fanny Morice Picard, Eulalie Lasseaux, Nathalie Aladjidi, Nathalie Séta, Valérie Cormier‐Daire, Emile Van Schaftingen, Bénédicte Neven, Despina Moshous, Sophie Blesson, Capucine Pïcard