Seaby, Eleanor, Gilbert, Rodney, Pengelly, Reuben, Andreoletti, Gaia, Clarke, Antonia and Ennis, Sarah (2016) Progressive myoclonic epilepsy with Fanconi syndrome. JRSM Short Reports, 7 (6), 1-4. (doi:10.1177/2054270415623145). (PMID:27293772)
Record type:
Article
Abstract
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes.
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2016, Seaby_Progressive myoclonic epilepsy with Fanconi syndrome.pdf
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Accepted/In Press date: 13 November 2015
e-pub ahead of print date: 6 June 2016
Organisations:
Human Development & Health
Identifiers
Local EPrints ID: 396882
URI: http://eprints.soton.ac.uk/id/eprint/396882
ISSN: 2042-5333
PURE UUID: 48315b1e-40c5-468f-a1e7-05c5f7f05798
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Date deposited: 14 Jun 2016 15:49
Last modified: 15 Mar 2024 04:08
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Contributors
Author:
Eleanor Seaby
Author:
Rodney Gilbert
Author:
Gaia Andreoletti
Author:
Antonia Clarke
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