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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.

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Bibliographic Details
Published in:JRSM Open
Main Authors: Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah
Format: Artigo
Language:Inglês
Published: SAGE Publications 2016
Subjects:
Online Access: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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