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

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dc.contributor.authorPoyatos-Andújar, Antonio Miguel
dc.contributor.authorGarcía-Linares, Susana
dc.contributor.authorCarretero, Pilar
dc.contributor.authorOcon, Olga
dc.contributor.authorFresneda, Dolores
dc.contributor.authorGort, Laura
dc.contributor.authorMolina García, Francisa Sonia
dc.date.accessioned2025-01-07T14:45:01Z
dc.date.available2025-01-07T14:45:01Z
dc.date.issued2020-12-11
dc.description.abstractClinical 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.
dc.identifier.doi10.1002/ccr3.3644
dc.identifier.issn2050-0904
dc.identifier.pmcPMC7869334
dc.identifier.pmid33598246
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC7869334/pdf
dc.identifier.unpaywallURLhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.3644
dc.identifier.urihttps://hdl.handle.net/10668/26642
dc.issue.number2
dc.journal.titleClinical case reports
dc.journal.titleabbreviationClin Case Rep
dc.language.isoen
dc.organizationSAS - Hospital Costa del Sol
dc.page.number790-795
dc.pubmedtypeCase Reports
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectMucopolysaccharidosis VII
dc.subjectSly syndrome
dc.subjectclinical exome sequencing
dc.subjectglycosaminoglycans
dc.subjectprenatal diagnosis
dc.subjectβ‐glucuronidase
dc.titlePrenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number9

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