Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities

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Abstract

A boy aged 91 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.

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Popović-Rolović, M., Čalić-Perišić, N., Bunjevački, G., & Negovanović, D. (1976). Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Archives of Disease in Childhood, 51(10), 801–803. https://doi.org/10.1136/adc.51.10.801

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