The University of Southampton
University of Southampton Institutional Repository

[Familial choroideremia--case report]

[Familial choroideremia--case report]
[Familial choroideremia--case report]
We present a case of familial choroideremia followed for several years in 3 successive generations and which represented a diagnostic challenge as the final diagnosis was provided only by genetic testing.
1220-0875
45-49
Stinghe, Alina
d2e76353-e14f-4c8f-9f64-1a6785cf4d1d
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Stinghe, Alina
d2e76353-e14f-4c8f-9f64-1a6785cf4d1d
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Stinghe, Alina and Lotery, Andrew J. (2009) [Familial choroideremia--case report]. Oftalmologia, 53 (4), 45-49. (PMID:20361649)

Record type: Article

Abstract

We present a case of familial choroideremia followed for several years in 3 successive generations and which represented a diagnostic challenge as the final diagnosis was provided only by genetic testing.

This record has no associated files available for download.

More information

Published date: 2009
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 359186
URI: http://eprints.soton.ac.uk/id/eprint/359186
ISSN: 1220-0875
PURE UUID: 4c4be40b-fbb1-41ff-b978-217f438da3b1
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 23 Oct 2013 13:16
Last modified: 08 Jan 2022 02:58

Export record

Contributors

Author: Alina Stinghe

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×