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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author Seaby, Eleanor G
Gilbert, Rodney D
Pengelly, Reuben J
Andreoletti, Gaia
Clarke, Antonia
Ennis, Sarah
author_facet Seaby, Eleanor G
Gilbert, Rodney D
Pengelly, Reuben J
Andreoletti, Gaia
Clarke, Antonia
Ennis, Sarah
author_sort Seaby, Eleanor G
collection PubMed
description This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
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spelling pubmed-49001962016-06-10 Progressive myoclonic epilepsy with Fanconi syndrome Seaby, Eleanor G Gilbert, Rodney D Pengelly, Reuben J Andreoletti, Gaia Clarke, Antonia Ennis, Sarah JRSM Open Case Reports This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes. SAGE Publications 2016-06-06 /pmc/articles/PMC4900196/ /pubmed/27293772 http://dx.doi.org/10.1177/2054270415623145 Text en © The Author(s) 2016 http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page(https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Reports
Seaby, Eleanor G
Gilbert, Rodney D
Pengelly, Reuben J
Andreoletti, Gaia
Clarke, Antonia
Ennis, Sarah
Progressive myoclonic epilepsy with Fanconi syndrome
title Progressive myoclonic epilepsy with Fanconi syndrome
title_full Progressive myoclonic epilepsy with Fanconi syndrome
title_fullStr Progressive myoclonic epilepsy with Fanconi syndrome
title_full_unstemmed Progressive myoclonic epilepsy with Fanconi syndrome
title_short Progressive myoclonic epilepsy with Fanconi syndrome
title_sort progressive myoclonic epilepsy with fanconi syndrome
topic Case Reports
url 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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