Publication: Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
No Thumbnail Available
Identifiers
Date
2020-12-11
Authors
Miguel Poyatos-Andujar, Antonio
Garcia-Linares, Susana
Carretero, Pilar
Ocon, Olga
Fresneda, Dolores
Gort, Laura
Molina Garcia, Francisa Sonia
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley
Metrics
Export
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.
Description
MeSH Terms
DeCS Terms
CIE Terms
Keywords
clinical exome sequencing, glycosaminoglycans, Mucopolysaccharidosis VII, prenatal diagnosis, Sly syndrome, beta-glucuronidase, Diagnosis