Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known c...

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Detalles Bibliográficos
Autores principales: González-Domínguez, C.A., Raya-Trigueros, A., Manrique-Hernández, S., González Jaimes, A., Salinas-Marín, R., Molina-Garay, C., Carrillo-Sánchez, K., Flores-Lagunes, L.L., Jiménez-Olivares, M., Dehesa-Caballero, C., Alaez-Versón, C., Martínez-Duncker, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451422/
https://www.ncbi.nlm.nih.gov/pubmed/32874916
http://dx.doi.org/10.1016/j.ymgmr.2020.100637

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