一名患有智力障碍综合征的中年男性中该基因新型错义突变的报告。
Report of a novel missense mutation in the gene in a middle-aged man with intellectual disability syndrome.
作者信息
Arvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana
机构信息
Neurology Päijät-Häme Joint Municipal Authority Lahti Finland.
PEDEGO Oulu University Hospital Oulu Finland.
出版信息
Clin Case Rep. 2021 Aug 21;9(8):e04602. doi: 10.1002/ccr3.4602. eCollection 2021 Aug.
Abstract
Exome sequencing revealed the cause of our 35-year-old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.
摘要
外显子组测序揭示了我们这位35岁男性患者进行性重度智力和运动残疾的病因，即一种此前未被描述过的MECP2错义突变。
Zotero 插件