Schorderet, Daniel F

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). [electronic resource] - Human mutation Nov 2009 - 1475-85 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

1098-1004

10.1002/humu.21096 doi


Animals
Databases, Genetic
Diagnosis, Differential
Eye Diseases, Hereditary--diagnosis
Genotype
Humans
Mice
Mutation
Orphan Nuclear Receptors--chemistry
Retinitis Pigmentosa--genetics
Syndrome