Author:
Sustar M.,Perovšek D.,Cima I.,Stirn-Kranjc B.,Hawlina M.,Brecelj J.
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Reference41 articles.
1. Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31:827–838
2. Marmor MF, Jacobson SG, Foerster MH et al (1990) Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 110:124–134
3. Kobayashi M, Takezawa S, Hara K et al (1999) Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci USA 96:4814–4819
4. Haider NB, Jacobson SG, Cideciyan AV et al (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24:127–131
5. Schorderet DF, Escher P (2009) NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat 30:1475–1485
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