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

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.

Bibliographic Details
Main Authors: Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Clinical Case Reports
Subjects:
clinical exome sequencing
glycosaminoglycans
Mucopolysaccharidosis VII
prenatal diagnosis
Sly syndrome
β‐glucuronidase
Online Access:https://doi.org/10.1002/ccr3.3644

Internet

https://doi.org/10.1002/ccr3.3644

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