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Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

Developmental BiologyMetabolic DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseHematologyGenetic EpidemiologyPathologyPhenotypic VariabilitySevere Congenital NeutropeniaNovel GenotypesDisease Gene IdentificationMedicineClinical Genetics