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三种罕见视网膜疾病的遗传学研究:视网膜营养不良性耳聋综合征、X染色体性视网膜劈裂症和视网膜色素群聚症

A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, x-chromosomal retinoschisis and grouped pigments of the retina.

作者信息

Forsius H, Eriksson A, Nuutila A, Vainio-Mattila B, Krause U

出版信息

Birth Defects Orig Artic Ser. 1971 Mar;7(3):83-98.

PMID:5173151
Abstract
  1. Dystrophia retinae dysacusis syndrome: Two different recessively inherited forms have been observed among 133 cases diagnosed in Finland--a country with a population of 4.6 million. 2) X-chromosomal retinoschisis: A series of 179 ophthalmoscopically verified familial cases is reported. The loci for Xg and retinoschisis are within measurable distance on the X-chromosome, but deutan dyschromatopsia is far from these. 3) Grouped pigments of the retina: No evidence of heredity was detected among 23 cases on the basis of the last four to six generations. The sex ratio is 15:8.
摘要
  1. 视网膜萎缩性耳聋综合征:在芬兰这个拥有460万人口的国家确诊的133例病例中,观察到两种不同的隐性遗传形式。2) X连锁视网膜劈裂症:报告了一系列179例经检眼镜检查证实的家族性病例。Xg和视网膜劈裂症的基因座在X染色体上的距离可测,但绿色盲离这些基因座较远。3) 视网膜色素群聚:在23例病例中,根据最近四到六代人的情况未发现遗传证据。男女比例为15:8。

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