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

Poyatos-Andújar, Antonio MiguelGarcía-Linares, SusanaCarretero, PilarOcon, OlgaFresneda, DoloresGort, LauraMolina García, Francisa Sonia2025-01-072025-01-072020-12-112050-0904https://hdl.handle.net/10668/26642Clinical 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/Mucopolysaccharidosis VIISly syndromeclinical exome sequencingglycosaminoglycansprenatal diagnosisβ‐glucuronidasePrenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.research article33598246open access10.1002/ccr3.3644PMC7869334https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.3644https://pmc.ncbi.nlm.nih.gov/articles/PMC7869334/pdf