A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

PURPOSE: To clinically and molecularly investigate a new family with North Carolina macular dystrophy (NCMD) from Turkey, a previously unreported geographic origin for this phenotype. METHODS: Clinical ophthalmic examinations, including fundus imaging and spectral domain-optical coherence tomography...

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Detalles Bibliográficos
Autores principales: Small, Kent W., Van de Sompele, Stijn, Nuytemans, Karen, Vincent, Andrea, Yuregir, Ozge Ozalp, Ciloglu, Emine, Sariyildiz, Cahfer, Rosseel, Toon, Avetisjan, Jessica, Udar, Nitin, Vance, Jeffery M., Pericak-Vance, Margaret A., De Baere, Elfride, Shaya, Fadi S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410230/
https://www.ncbi.nlm.nih.gov/pubmed/34526759

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