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常染色体显性遗传性视网膜色素变性和类科茨病。

Autosomal dominant retinitis pigmentosa and Coats'-like disease.

作者信息

Spallone A, Carlevaro G, Ridling P

出版信息

Int Ophthalmol. 1985 Sep;8(3):147-51. doi: 10.1007/BF00136491.

Abstract

Two patients with retinitis pigmentosa of the dominant type and a Coats'-like syndrome were studied. The aetiology of the Coats'-like syndrome in retinitis pigmentosa is obscure. The principal theories will be reported in this paper. The association between retinitis pigmentosa and Coats'-like disease has been reported many times in a sporadic way (Zamorani, 1956; Morgan and Crawford, 1968). As far as we know this association in more than one member of the same pedigree has been published only in two papers (Schmidt and Faulborn, 1972; Lanier, McCrary and Justice, 1976). Below we describe the case of two brothers suffering from retinitis pigmentosa of the dominant type and Coats'-like syndrome. To our knowledge this is the first report in English of the occurrence in a family of association of retinitis pigmentosa of the dominant type and Coats'-like syndrome which occurred in two brothers of non consanguineous parents.

摘要

对两名患有显性视网膜色素变性和类科茨综合征的患者进行了研究。视网膜色素变性中类科茨综合征的病因尚不清楚。本文将报告主要理论。视网膜色素变性与类科茨病之间的关联已被多次零星报道(扎莫拉尼,1956年;摩根和克劳福德,1968年)。据我们所知,同一谱系中不止一名成员存在这种关联的情况仅在两篇论文中发表过(施密特和福尔伯恩,1972年;拉尼尔、麦克拉里和贾斯蒂斯,1976年)。以下我们描述了两名患有显性视网膜色素变性和类科茨综合征的兄弟的病例。据我们所知,这是英文文献中首次报道非近亲父母的两个兄弟家族中出现显性视网膜色素变性与类科茨综合征的关联。

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