Progressive myoclonic epilepsy with Fanconi syndrome

This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.

Detalles Bibliográficos
Autores principales: Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900196/
https://www.ncbi.nlm.nih.gov/pubmed/27293772
http://dx.doi.org/10.1177/2054270415623145

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