RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
Zito
I
I
Downes
S M
SM
Patel
R J
RJ
Cheetham
M E
ME
Ebenezer
N D
ND
Jenkins
S A
SA
Bhattacharya
S S
SS
Webster
A R
AR
Holder
G E
GE
Bird
A C
AC
Bamiou
D E
DE
Hardcastle
A J
AJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002925:Ciliary Motility Disorders / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012141:Respiratory Tract Infections / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012852:Sinusitis / Q000235:genetics* / Q000382:microbiology; D013577:Syndrome; D013896:Thoracic Diseases / Q000235:genetics / Q000382:microbiology
D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human