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Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

Early Fatal CourseMendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyAutopsy FindingsMedicinePmm2 GeneInborn Error Of ImmunityClinical Genetics