GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data

To report the clinical phenotype and associated genotype of a European patient cohort with GUCY2D-related autosomal-dominant (AD) cone–/cone–rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12–68) with GUCY2D-related AD-COD/CORD from three major academic centers in...

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Detalles Bibliográficos
Autores principales: Neubauer, Jonas, Hahn, Leo, Birtel, Johannes, Boon, Camiel J. F., Charbel Issa, Peter, Fischer, M. Dominik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872159/
https://www.ncbi.nlm.nih.gov/pubmed/35205358
http://dx.doi.org/10.3390/genes13020313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872159/
https://www.ncbi.nlm.nih.gov/pubmed/35205358
http://dx.doi.org/10.3390/genes13020313

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