%0 Journal Article
%A Poyatos-Andújar, Antonio Miguel
%A García-Linares, Susana
%A Carretero, Pilar
%A Ocon, Olga
%A Fresneda, Dolores
%A Gort, Laura
%A Molina García, Francisa Sonia
%T Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.
%D 2020
%@ 2050-0904
%U https://hdl.handle.net/10668/26642
%X 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.
%K Mucopolysaccharidosis VII
%K Sly syndrome
%K clinical exome sequencing
%K glycosaminoglycans
%K prenatal diagnosis
%K β‐glucuronidase
%~