Article
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Nature genetics - 1 Feb 2000
Haider N B, Jacobson S G, Cideciyan A V, Swiderski R, Streb L M, Searby C, Beck G, Hockey R, Hanna D B, Gorman S, Duhl D, Carmi R, Bennett J, Weleber R G, Fishman G A, Wright A F, Stone E M, Sheffield V C
Abstract excerpt
Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photo...
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