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Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

UrologyMendelian DisorderAutoimmune DiseaseGenetic DisorderInherited Metabolic DiseasePathogenesisGenetic EpidemiologyPathologyMultiple Sulfatase DeficiencyNovel Sumf1 VariantGenetic CauseMedical GeneticsDisease Gene IdentificationMedicineInborn Error Of ImmunityClinical Genetics