Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation.
Weinberg
D V
DV
d-weinberg2@northwestern.edu
Sieving
P A
PA
Bingham
E L
EL
Jampol
L M
LM
Mets
M B
MB
D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D014960:X Chromosome
D005136:Eye Proteins; C108726:RS1 protein, human