Article
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
American journal of human genetics - 9 Dec 2011
Sergouniotis Panagiotis I, Davidson Alice E, Mackay Donna S, Lenassi Eva, Li Zheng, Robson Anthony G, Yang Xu, Kam Jaimie Hoh, Isaacs Timothy W, Holder Graham E, Jeffery Glen, Beck Jonathan A, Moore Anthony T, Plagnol Vincent, Webster Andrew R
Abstract excerpt
Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or limited distribution of yellow-white retinal lesions of various sizes and configurations. Three siblings who have benign fleck retina and were born to consanguineous parents are the basis of this report. A combination of homozygosity mapping and exome...
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