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

Autor: 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.

Publikováno v: MOLECULAR VISION

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 imagin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______330::1cee65fd7192fddf98a9115ff36c3510
https://biblio.ugent.be/publication/8720937

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

Autor: Small KW; Macula and Retina Institute, Glendale and Los Angeles, CA.; Molecular Insight Research Foundation, Glendale and Los Angeles, CA., Van de Sompele S; Center for Medical Genetics Ghent (CMGG), Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent Belgium., Nuytemans K; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL., Vincent A; Ophthalmology, New Zealand National Eye Centre, University of Auckland, New Zealand., Yuregir OO; University of Health Sciences and Adana City Hospital, Adana, Turkey., Ciloglu E; University of Health Sciences and Adana City Hospital, Adana, Turkey., Sariyildiz C; University of Health Sciences and Adana City Hospital, Adana, Turkey., Rosseel T; Center for Medical Genetics Ghent (CMGG), Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent Belgium., Avetisjan J; Macula and Retina Institute, Glendale and Los Angeles, CA.; Molecular Insight Research Foundation, Glendale and Los Angeles, CA., Udar N; Macula and Retina Institute, Glendale and Los Angeles, CA.; Molecular Insight Research Foundation, Glendale and Los Angeles, CA., Vance JM; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL., De Baere E; Center for Medical Genetics Ghent (CMGG), Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent Belgium., Shaya FS; Macula and Retina Institute, Glendale and Los Angeles, CA.; Molecular Insight Research Foundation, Glendale and Los Angeles, CA.

Publikováno v: Molecular vision [Mol Vis] 2021 Sep 01; Vol. 27, pp. 518-527. Date of Electronic Publication: 2021 Sep 01 (Print Publication: 2021).