Increasing evidence for syndromic phenotypes associated with RPGR mutations.
Iannaccone
Alessandro
A
Wang
Xiaofei
X
Jablonski
Monica M
MM
Kuo
Sharon F
SF
Baldi
Alfonso
A
Cosgrove
Dominic
D
Morton
Cynthia C
CC
Swaroop
Anand
A
D005136:Eye Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
D005136:Eye Proteins; C099929:RPGR protein, human