Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.
Iannaccone
Alessandro
A
Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA. aiannacc@utmem.edu
Othman
Mohammad I
MI
Cantrell
April D
AD
Jennings
Barbara J
BJ
Branham
Kari
K
Swaroop
Anand
A
D001120:Arginine / Q000378:metabolism; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010033:Otitis Media / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012141:Respiratory Tract Infections / Q000235:genetics / Q000473:pathology; D012160:Retina / Q000378:metabolism / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D052245:Usher Syndromes / Q000235:genetics*
D005136:Eye Proteins; C099929:RPGR protein, human; D001120:Arginine