RT Journal Article
T1 Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.
A1 Poyatos-Andújar, Antonio Miguel
A1 García-Linares, Susana
A1 Carretero, Pilar
A1 Ocon, Olga
A1 Fresneda, Dolores
A1 Gort, Laura
A1 Molina García, Francisa Sonia
K1 Mucopolysaccharidosis VII
K1 Sly syndrome
K1 clinical exome sequencing
K1 glycosaminoglycans
K1 prenatal diagnosis
K1 β‐glucuronidase
AB 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.
SN 2050-0904
YR 2020
FD 2020-12-11
LK https://hdl.handle.net/10668/26642
UL https://hdl.handle.net/10668/26642
LA en
DS RISalud
RD Apr 17, 2025