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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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Published in: | JRSM Open |
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Main Authors: | , , , , , |
Format: | Artigo |
Language: | Inglês |
Published: |
SAGE Publications
2016
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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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