Publication | Open Access

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

Primary ImmunodeficiencySevere Combined ImmunodeficiencyMendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesisInherited Metabolic DiseaseImmunodeficienciesPathologyMolecular GeneticsDisease Gene IdentificationSkeletal DysplasiaPhosphoglucomutase 3MedicineInborn Error Of Immunity