Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.
Simonelli
F
F
Rinaldi
M
M
Nesti
A
A
Testa
F
F
Rinaldi
E
E
Ciccodicola
A
A
Flagiello
L
L
Miano
M G
MG
Ventruto
V
V
D'Urso
M
M
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D012243:Rhodopsin