Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

Automated summary

Clinical exome sequencing is a powerful tool that can help overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis, providing valuable data for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.