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Article

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

Journal of medical genetics - 27 Nov 2023

Sergouniotis Panagiotis I, Michaud Vincent, Lasseaux Eulalie, Campbell Christopher, Plaisant Claudio, Javerzat Sophie, Birney Ewan, Ramsden Simon C, Black Graeme C, Arveiler Benoit

Abstract excerpt

Albinism is a clinically and genetically heterogeneous group of conditions characterised by visual abnormalities and variable degrees of hypopigmentation. Multiple studies have demonstrated the clinical utility of genetic investigations in individuals with suspected albinism. Despite this, the variation in the provision of genetic testing for albinism remains significant. One key issue is the lack of a...

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PMID: 37460203
DOI: 10.1136/jmg-2022-109088
PMCID: PMC10715518

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