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

ABSTRACT: 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.

SUBMITTER: Poyatos-Andujar AM 

PROVIDER: S-EPMC7869334 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature