Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. Issue 11 (19th November 2003)

• Record Type: Journal Article
• Authors: Iannaccone, A; Breuer, D K; Wang, X F; Kuo, S F; Normando, E M; Filippova, E; Baldi, A; Hiriyanna, S; MacDonald, C B; Baldi, F; Cosgrove, D; Morton, C C; Swaroop, A; Jablonski, M M
• Is Part Of: Journal of medical genetics. Volume 40:Issue 11(2003)
• Page Start: e118
• Page End: e118
• Publication Date: 2003-11-19
• Subjects: RPGR -- Usher syndrome -- hearing loss -- respiratory tract infections -- retinitis pigmentosa; BMI, body mass index -- BT, biotinylated tyramine -- DAB, 3, 3′-diaminobenzidine -- ERG, electroretinogram -- HL, hearing loss -- MTI, myringotomy tube insertion -- NHS, normal horse serum -- PBS, phosphate buffered saline -- PTA, pure tone audiometry -- ROM, relapsing otitis media -- RUTI, recurrent upper respiratory tract infections -- RP, retinitis pigmentosa -- XLRP, X linked recessive RP; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.40.11.e118
• Languages: English
• ISSNs: 1468-6244