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.

Guardat en:
Dades bibliogràfiques
Publicat a:JRSM Open
Autors principals: Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah
Format: Artigo
Idioma:Inglês
Publicat: SAGE Publications 2016
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4900196/
https://ncbi.nlm.nih.gov/pubmed/27293772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2054270415623145
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