Article
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.
Journal of human genetics - 1 May 2020
Zhang Lei, Zhang Zhiping, Bi Xingyu, Mao Yong, Cheng Yanbing, Zhu Pengfei, Xu Suming, Wang Yaoqin, Zhan Xiaoyu, Fan Junmei, Yuan Yuan, Bi Huixia, Wu Xueqing
Abstract excerpt
Ventriculomegaly with cystic kidney disease (VMCKD) is a rare and severe disorder characterized by cerebral ventriculomegaly, greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels and kidney disease similar to Finnish congenital nephrosis. Recessive mutations in the CRB2 (NM_173689) gene have been shown to cause the syndrome. Here, we described a...
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