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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
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.
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7869334/ https://ncbi.nlm.nih.gov/pubmed/33598246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3644 |
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