表型
哼
肌张力障碍
遗传学
突变
小脑共济失调
共济失调
癫痫
基因
脑病
生物
医学
神经科学
内科学
艺术
表演艺术
艺术史
作者
Matej Škorvánek,Petr Dušek,Małgorzata Rydzanicz,Anna Walczak,Joanna Kosińska,Grażyna Kostrzewa,Małgorzata Brzozowska,Vladimir Han,Petra Došekova,Zuzana Gdovinová,Zdenka Lehotska,Paweł Lisowski,Rafał Płoski
标识
DOI:10.1016/j.parkreldis.2019.01.017
摘要
Recently mutations in IRF2BPL gene with a complex neurological phenotype including combination of progressive neurodevelopmental delay, seizures, cerebellar ataxia, dystonia and pyramidal signs were reported in 2 independent studies [1,2].
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