TY  - JOUR
AU  - Miguel Poyatos-Andujar, Antonio
AU  - Garcia-Linares, Susana
AU  - Carretero, Pilar
AU  - Ocon, Olga
AU  - Fresneda, Dolores
AU  - Gort, Laura
AU  - Molina Garcia, Francisa Sonia
PY  - 2020
DO  - 10.1002/ccr3.3644
SN  - 2050-0904
UR  - http://hdl.handle.net/10668/18607
T2  - Clinical case reports
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.
LA  - en
PB  - Wiley
KW  - clinical exome sequencing
KW  - glycosaminoglycans
KW  - Mucopolysaccharidosis VII
KW  - prenatal diagnosis
KW  - Sly syndrome
KW  - beta-glucuronidase
KW  - Diagnosis
TI  - Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
TY  - research article
VL  - 9
ER  -