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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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Poyatos‐Andújar, Antonio Miguel, García‐Linares, Susana, Carretero, Pilar, Ocon, Olga, Fresneda, Dolores, Gort, Laura, Molina García, Francisa Sonia
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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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