Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype-MedSci.cn

Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype

Chen, HZ; Li, N; Xu, YF; Li, GQ; Song, C; Yao, RE; Yu, TT; Wang, J; Yang, L

Wang, J (通讯作者)，Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Dept Med Genet & Mol Diagnost Lab, Sch Med, 1678 Dongfang Rd, Shanghai 200127, Peoples R China.;Wang, J (通讯作者)，Shanghai Key Lab Clin Mol Diagnost Pediat, Shanghai, Peoples R China.;Wang, J (通讯作者)，Shanghai Clin Res Ctr Rare Pediat Dis, Shanghai, Peoples R China.;Yang, L (通讯作者)，Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Dept Clin Lab, Sch Med, Shanghai, Peoples R China.

Abstract

The target of EGR1 protein 1 (TOE1) is a 3-exonuclease belonging to the Asp-Glu-Asp-Asp deadenylase family that plays a vital role in the maturation o......

Full Text Link

Links

内科

外科

专科科室

热点

按科室浏览

临床工具

科研工具

其他工具

科研数智化

真实世界研究解决方案

数字化学术传播解决方案

其它

Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype

科室

工具

服务