Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
Iannaccone
A
A
Breuer
D K
DK
Wang
X F
XF
Kuo
S F
SF
Normando
E M
EM
Filippova
E
E
Baldi
A
A
Hiriyanna
S
S
MacDonald
C B
CB
Baldi
F
F
Cosgrove
D
D
Morton
C C
CC
Swaroop
A
A
Jablonski
M M
MM
D000293:Adolescent; D000368:Aged; D000595:Amino Acid Sequence; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics* / Q000276:immunology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006311:Hearing Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
D005136:Eye Proteins; C099929:RPGR protein, human