Article
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
American journal of human genetics - 4 Jun 2015
El-Asrag Mohammed E, Sergouniotis Panagiotis I, McKibbin Martin, Plagnol Vincent, Sheridan Eamonn, Waseem Naushin, Abdelhamed Zakia, McKeefry Declan, Van Schil Kristof, Poulter James A, Johnson Colin A, Carr Ian M, Leroy Bart P, De Baere Elfride, Inglehearn Chris F, Webster Andrew R, Toomes Carmel, Ali Manir
Abstract excerpt
Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the third or fourth decade of life. Affected individuals were found to harbor disease-causing variants in DRAM2 (DNA-damage regulated...
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