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Increasing evidence for syndromic phenotypes associated with RPGR mutations.
Iannaccone A, Wang X, Jablonski MM, Kuo SF, Baldi A, Cosgrove D, Morton CC, Swaroop A. Iannaccone A, et al. Among authors: kuo sf. Am J Ophthalmol. 2004 Apr;137(4):785-6; author reply 786. doi: 10.1016/j.ajo.2003.11.050. Am J Ophthalmol. 2004. PMID: 15059739 No abstract available.
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM. Iannaccone A, et al. Among authors: kuo sf. J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118. J Med Genet. 2003. PMID: 14627685 Free PMC article. No abstract available.
128 results