A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant

PURPOSE: North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a non-progressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy in a family (MOL1154) consisting of six affected...

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Detalles Bibliográficos
Autores principales: Namburi, Prasanthi, Khateb, Samer, Meyer, Segev, Bentovim, Tom, Ratnapriya, Rinki, Khramushin, Alisa, Swaroop, Anand, Schueler-Furman, Ora, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245606/
https://www.ncbi.nlm.nih.gov/pubmed/32476814

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