青少年肾单位肾痨伴视网膜色素变性、小脑共济失调和骨骼异常。
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.
作者信息
Popović-Rolović M, Calić-Perisíc N, Bunjevacki G, Negovanović D
出版信息
Arch Dis Child. 1976 Oct;51(10):801-3. doi: 10.1136/adc.51.10.801.
Abstract
A boy aged 9 3/4 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.
摘要
本文描述了一名9又3/4岁的男孩，患有间质性肾炎、视网膜色素变性、小脑共济失调和骨骼异常。这种关联可能是由于一种新的遗传疾病引起的，因为已经报道了2例类似病例。
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