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

Title:	Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
Authors:	Fusaro, Mathieu^{Aff1, Aff2, IDs1087502100985w_cor1}; Vincent, Aline^Aff3; Castelle, Martin^Aff4; Rosain, Jérémie^{Aff2, Aff5}; Fournier, Benjamin^{Aff1, Aff4}; Veiga-da-Cunha, Maria^Aff6; Kentache, Takfarinas^Aff6; Serre, Jill^Aff7; Fallet-Bianco, Catherine^Aff8; Delezoide, Anne-Lise^Aff9; Renesme, Laurent^Aff10; Picard, Fanny Morice^Aff11; Lasseaux, Eulalie^Aff11; Aladjidi, Nathalie^{Aff12, Aff13}; Seta, Nathalie^Aff14; Cormier-Daire, Valérie^{Aff1, Aff15}; Schaftingen, Emile van^Aff6; Neven, Bénédicte^{Aff1, Aff4}; Moshous, Despina^{Aff1, Aff4}; Blesson, Sophie^Aff3; Picard, Capucine^{Aff1, Aff2, Aff4, Aff16}
Source:	Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(5):958-966
Database:	Springer Nature Journals