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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.
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869334/ https://www.ncbi.nlm.nih.gov/pubmed/33598246 http://dx.doi.org/10.1002/ccr3.3644 |