Clinical Exome Sequencing for Genetic Identification of West Syndrome.
Más información
Fecha de publicación: | 2018 |
Año de Inicio/Término: | 2018-2019 |
Financiamiento/Sponsor: | Genoma Mayor |
Notas: | We performed the sequencing of clinical exome of a patient diagnosed clinically with West Syndrome together with your relatives (mother, father and brother). Our goal is to validate the diagnosis using a genomic platform for the study of complex disorders. |