Cotlier E, Rose M, Moel S A
Am J Ophthalmol. 1978 Jul;86(1):129-32. doi: 10.1016/0002-9394(78)90029-6.
We studied the first instance of aniridia-Wilms' tumor syndrome in twins who were mentally retarded. Both of them had congenital aniridia, cataracts, and glaucoma; only one subsequently developed a Wilms' tumor. A two-allele, two-step mutation is the most likely explanation of this genetically abnormal syndrome in twins. The aniridia-Wilms' tumor syndrome in twins further documents the relationship of teratogenic malformations and neoplasias.
我们研究了一对智力发育迟缓的双胞胎中无虹膜-威尔姆斯瘤综合征的首例病例。他们两人都患有先天性无虹膜、白内障和青光眼；只有一人后来患上了威尔姆斯瘤。双等位基因两步突变是这对双胞胎这种基因异常综合征最可能的解释。双胞胎中的无虹膜-威尔姆斯瘤综合征进一步证明了致畸性畸形与肿瘤形成之间的关系。
