论文部分内容阅读
笔者观察到3例Joubert综合征(JS)合并有双侧视盘牵牛花畸形和肾脏囊性发育不良,其来自一个有血缘关系的家族。基因纯合性定位排除了隐藏着该疾病基因的3个JS备选位点,再此描述了一个与JS及其相关病情明显不同的常染色体隐性遗传疾病。
The authors observed three cases of Joubert’s syndrome (JS) with bilateral optic disc hernia and renal cystic dysplasia, which came from a blood-related family. Homozygous localization of the gene ruled out three JS candidate sites that hid the disease gene, and then described an autosomal recessive disease that is significantly different from JS and its related conditions.