Pseudodominance in two families with KCNV2 related retinopathy

PURPOSE: To describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease. OBSERVATIONS: Three affected members from each family were ascertained. Family 1 of Egyptian ancestry...

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Detalles Bibliográficos
Autores principales: Kiray, Gulunay, Rapata, Micah, Sharp, Dianne, Vincent, Andrea L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057165/
https://www.ncbi.nlm.nih.gov/pubmed/32154435
http://dx.doi.org/10.1016/j.ajoc.2020.100625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057165/
https://www.ncbi.nlm.nih.gov/pubmed/32154435
http://dx.doi.org/10.1016/j.ajoc.2020.100625

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