MKS1 基因变异所致Joubert 综合征1 例临床及基因分析
张广宇,李三松,杨磊,等
Clinical and genetic analysis of a patient with Joubert syndrome caused by MKS1 gene mutation
ZHANG Guangyu, LI Sansong, Yang Lei, et al
临床儿科杂志 . 2020, (2): 116 - .  DOI: 10.3969/j.issn.1000-3606.2020.02.010