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.

Detalles Bibliográficos
Autores principales: Poyatos‐Andújar, Antonio Miguel, García‐Linares, Susana, Carretero, Pilar, Ocon, Olga, Fresneda, Dolores, Gort, Laura, Molina García, Francisa Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
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

Internet

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

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