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

Miguel Poyatos-Andujar, AntonioGarcia-Linares, SusanaCarretero, PilarOcon, OlgaFresneda, DoloresGort, LauraMolina Garcia, Francisa Sonia2023-02-092023-02-092020-12-112050-0904http://hdl.handle.net/10668/18607Clinical 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.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/clinical exome sequencingglycosaminoglycansMucopolysaccharidosis VIIprenatal diagnosisSly syndromebeta-glucuronidaseDiagnosisPrenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB generesearch articleopen access10.1002/ccr3.3644https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.3644597371700001