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Article

Understanding the impact of genetic testing for inherited retinal dystrophy.

European journal of human genetics : EJHG - 1 Nov 2013

Combs Ryan, McAllister Marion, Payne Katherine, Lowndes Jo, Devery Sophie, Webster Andrew R, Downes Susan M, Moore Anthony T, Ramsden Simon, Black Graeme, Hall Georgina

Abstract excerpt

The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23403902
DOI: 10.1038/ejhg.2013.19
PMCID: PMC3798830

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