title: Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
authors: A
authors: A
authors: Iannaccone
authors: D K
authors: DK
authors: Breuer
authors: X F
authors: XF
authors: Wang
authors: S F
authors: SF
authors: Kuo
authors: E M
authors: EM
authors: Normando
authors: E
authors: E
authors: Filippova
authors: A
authors: A
authors: Baldi
authors: S
authors: S
authors: Hiriyanna
authors: C B
authors: CB
authors: MacDonald
authors: F
authors: F
authors: Baldi
authors: D
authors: D
authors: Cosgrove
authors: C C
authors: CC
authors: Morton
authors: A
authors: A
authors: Swaroop
authors: M M
authors: MM
authors: Jablonski
mesh_terms: 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
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human