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Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

20 Oct 2023

Abstract excerpt

Female carriers of X-linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease-causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey...

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PMID: 37859457
DOI: 10.1111/cge.14442

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