TY  - GEN
AU  - Sharon,Dror
AU  - Sandberg,Michael A
AU  - Caruso,Rafael C
AU  - Berson,Eliot L
AU  - Dryja,Thaddeus P
TI  - Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
SN  - 0003-9950
PY  - 2003///0923
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Dark Adaptation
KW  - Electroretinography
KW  - Eye Diseases, Hereditary
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Hyperopia
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Night Blindness
KW  - Orphan Nuclear Receptors
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Receptors, Cytoplasmic and Nuclear
KW  - Retinal Degeneration
KW  - Sequence Analysis, DNA
KW  - Syndrome
KW  - Transcription Factors
KW  - Visual Acuity
KW  - Visual Fields
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1001/archopht.121.9.1316
ER  -