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Br J Ophthalmol 2004;88:856
  • Miscellanea

New RPGR gene mutation produces an extended X linked RP syndrome

Researchers have warned against equating animal and human models of X linked retinitis pigmentosa (XLRP) after finding a new mutation in the retinitis pigmentosa GTPase regulator (RPGR) gene associated with a unique, extended XLRP syndrome in one family. The syndrome encompasses recurrent middle ear and upper respiratory tract infections (URTIs), …

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