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Fusaro M, Vincent A, Castelle M, et al. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. J Clin Immunol. 2021;41(5):958-966doi: 10.1007/s10875-021-00985-w.
Fusaro, M., Vincent, A., Castelle, M., Rosain, J., Fournier, B., Veiga-da-Cunha, M., Kentache, T., Serre, J., Fallet-Bianco, C., Delezoide, A. L., Renesme, L., Picard, F. M., Lasseaux, E., Aladjidi, N., Seta, N., Cormier-Daire, V., Schaftingen, E. V., Neven, B., Moshous, D., Blesson, S., & Picard, C. (2021). Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. Journal of clinical immunology, 41(5), 958-966. https://doi.org/10.1007/s10875-021-00985-w
Fusaro, Mathieu, et al. "Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations." Journal of clinical immunology vol. 41,5 (2021): 958-966. doi: https://doi.org/10.1007/s10875-021-00985-w
Fusaro M, Vincent A, Castelle M, Rosain J, Fournier B, Veiga-da-Cunha M, Kentache T, Serre J, Fallet-Bianco C, Delezoide AL, Renesme L, Picard FM, Lasseaux E, Aladjidi N, Seta N, Cormier-Daire V, Schaftingen EV, Neven B, Moshous D, Blesson S, Picard C. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. J Clin Immunol. 2021 Jul;41(5):958-966. doi: 10.1007/s10875-021-00985-w. Epub 2021 Feb 03. PMID: 33534079.
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