Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C > T/c.889C > T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

ConclusionsWe suggest that the mild phenotype might arise from the partially preserved function of the mutant enzyme (p.Pro213Leu), suggesting the genotype ‐phenotype correlation in this case.

Source: Molecular Genetics & Genomic Medicine - June 23, 2020 Category: Genetics & Stem Cells Authors: Karolina Pierzynowska, Arkadiusz Ma ński, Monika Limanówka, Jolanta Wierzba, Lidia Gaffke, Paulina Anikiej, Grzegorz Węgrzyn Tags: CLINICAL REPORT Source Type: research