Godel V, Iaina A, Nemet P, Lazar M
Clin Genet. 1979 Oct;16(4):277-81. doi: 10.1111/j.1399-0004.1979.tb01000.x.
Three families affected by juvenile nephronophthisis are described and genetically analyzed. The extrarenal manifestations of the disease include retinal findings such as congenital Leber amaurosis, retinitis pigmentosa and sector retinitis pigmentosa. Autosomal recessive transmission and the wide phenotypic spectrum are discussed. The variability in the retinal findings is explained by the presence of a pleiotropic gene with variable expressivity.
本文描述并对三个受青少年肾单位肾痨影响的家庭进行了基因分析。该疾病的肾外表现包括视网膜病变，如先天性莱伯先天性黑蒙、色素性视网膜炎和扇形色素性视网膜炎。文中讨论了常染色体隐性遗传及广泛的表型谱。视网膜病变的变异性可通过存在具有可变表达性的多效基因来解释。
