Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.
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2020-12-11
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Poyatos-Andújar, Antonio Miguel
García-Linares, Susana
Carretero, Pilar
Ocon, Olga
Fresneda, Dolores
Gort, Laura
Molina García, Francisa Sonia
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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.
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Mucopolysaccharidosis VII, Sly syndrome, clinical exome sequencing, glycosaminoglycans, prenatal diagnosis, β‐glucuronidase