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A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

PURPOSE: To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers. METHODS: Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included cen...

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Detalles Bibliográficos
Autores principales:	Scopelliti, Amanda J., Jamieson, Robyn V., Barnes, Elizabeth H., Nash, Benjamin, Rajagopalan, Sulekha, Cornish, Elisa L., Grigg, John R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638150/ https://www.ncbi.nlm.nih.gov/pubmed/37775646 http://dx.doi.org/10.1007/s10633-023-09954-7

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