Agenesis of cerebellar vermis
收藏NIAID Data Ecosystem2026-03-12 收录
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资源简介：
We found three male patients with agenesis of cerebellar vermis in a Chinese family. A novel variant c.599T>C in OFD1 gene was identified in this family by WES. This variant is deleterious through in silico analysis and functional studies in vivo and in vitro. In addition to dysplasia of vermis, the three patients have hydrocephlus, macrogyria and tetrology of Fallot, respectively.
创建时间：
2020-09-03
