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

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dc.contributor.authorMiguel Poyatos-Andujar, Antonio
dc.contributor.authorGarcia-Linares, Susana
dc.contributor.authorCarretero, Pilar
dc.contributor.authorOcon, Olga
dc.contributor.authorFresneda, Dolores
dc.contributor.authorGort, Laura
dc.contributor.authorMolina Garcia, Francisa Sonia
dc.contributor.authoraffiliation[Miguel Poyatos-Andujar, Antonio] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain
dc.contributor.authoraffiliation[Garcia-Linares, Susana] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain
dc.contributor.authoraffiliation[Carretero, Pilar] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain
dc.contributor.authoraffiliation[Ocon, Olga] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain
dc.contributor.authoraffiliation[Fresneda, Dolores] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain
dc.contributor.authoraffiliation[Molina Garcia, Francisa Sonia] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain
dc.contributor.authoraffiliation[Gort, Laura] CIBERER, Serv Bioquim & Genet Mol, Hosp Clin, IDIBAPS,Scccio Errors Congenits Metab IBC, Barcelona, Spain
dc.date.accessioned2023-02-09T11:53:02Z
dc.date.available2023-02-09T11:53:02Z
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.unpaywallURLhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.3644
dc.identifier.urihttp://hdl.handle.net/10668/18607
dc.identifier.wosID597371700001
dc.issue.number2
dc.journal.titleClinical case reports
dc.journal.titleabbreviationClin. case rep.
dc.language.isoen
dc.organizationHospital Universitario San Cecilio
dc.organizationHospital Universitario San Cecilio
dc.page.number790-795
dc.publisherWiley
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectclinical exome sequencing
dc.subjectglycosaminoglycans
dc.subjectMucopolysaccharidosis VII
dc.subjectprenatal diagnosis
dc.subjectSly syndrome
dc.subjectbeta-glucuronidase
dc.subjectDiagnosis
dc.titlePrenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number9
dc.wostypeArticle
dspace.entity.typePublication

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