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Progressive myoclonic epilepsy with Fanconi syndrome

Progressive myoclonic epilepsy with Fanconi syndrome
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.
2042-5333
1-4
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Gilbert, Rodney
a60642f2-761a-4a29-acad-2720db1d8ce9
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Clarke, Antonia
34370572-c6b8-49c0-b33e-0e921bf84b1d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Gilbert, Rodney
a60642f2-761a-4a29-acad-2720db1d8ce9
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Clarke, Antonia
34370572-c6b8-49c0-b33e-0e921bf84b1d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9

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.

Text
2016, Seaby_Progressive myoclonic epilepsy with Fanconi syndrome.pdf - Version of Record
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More information

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
ORCID for Eleanor Seaby: ORCID iD orcid.org/0000-0002-6814-8648
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 14 Jun 2016 15:49
Last modified: 15 Mar 2024 04:08

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Contributors

Author: Eleanor Seaby ORCID iD
Author: Rodney Gilbert
Author: Reuben Pengelly ORCID iD
Author: Gaia Andreoletti
Author: Antonia Clarke
Author: Sarah Ennis ORCID iD

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