近亲结婚的父母所生的2名男性同胞患双侧肾发育不全。
Bilateral renal agenesis in 2 male sibs born to consanguineous parents.
作者信息
Schinzel A, Homberger C, Sigrist T
出版信息
J Med Genet. 1978 Aug;15(4):314-6. doi: 10.1136/jmg.15.4.314.
Abstract
Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.
摘要
两名患有双侧肾和输尿管缺如的男孩是近亲结婚的产物。这个家族以及之前关于家族性双侧肾缺如的报道支持了这样一种推测，即一小部分双侧肾缺如病例是由常染色体隐性基因的纯合状态引起的。
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