Clinical Exome Sequencing for Genetic Identification of West Syndrome.

Sánchez, Carolina; Fonseca, Beatriz

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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.