Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
| Autor: | Francisa Sonia Molina García, Pilar Carretero, Dolores Fresneda, Susana García-Linares, Laura Gort, Olga Ocon, Antonio Poyatos-Andujar |
|---|---|
| Přispěvatelé: | [Miguel Poyatos-Andujar, Antonio] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain, [Garcia-Linares, Susana] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain, [Carretero, Pilar] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Ocon, Olga] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Fresneda, Dolores] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Molina Garcia, Francisa Sonia] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Gort, Laura] CIBERER, Serv Bioquim & Genet Mol, Hosp Clin, IDIBAPS,Scccio Errors Congenits Metab IBC, Barcelona, Spain |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Genetic counseling
Mucopolysaccharidosis Sly syndrome lcsh:Medicine Prenatal diagnosis Mucopolysaccharidosis VII Case Report Case Reports 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine β‐glucuronidase Diagnosis medicine Exome sequencing Genetic testing Genetics lcsh:R5-920 prenatal diagnosis medicine.diagnostic_test business.industry Genetic heterogeneity lcsh:R beta-glucuronidase clinical exome sequencing General Medicine medicine.disease glycosaminoglycans 030220 oncology & carcinogenesis business lcsh:Medicine (General) |
| Zdroj: | Clinical Case Reports, Vol 9, Iss 2, Pp 790-795 (2021) Clinical Case Reports |
| ISSN: | 2050-0904 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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