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About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5years, ranging from 1 to 14years. Almost all patients (12/13) were homozygous for the c.526CT (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875TC (p.Leu292Pro), in a compound heterozygous with the c.526CT (p.Leu176Phe) variant. This case series is the biggest data collection of MPS VII p
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