^pof;
Medical;
Genetics,;
Capital;
Institute;
of;
Pediatrics,;
Beijingl00020,;
China;
^pof;
Pediatrics,;
Chinese;
People's;
Liberation;
Army;
General;
Hospital,;
Beijing;
100852,;
China;
^pof;
Neurology,;
Beijing;
Children's;
Hospital,;
Capital;
Medical;
University,;
Beijing;
100045,;
China;
基因突变分析; 综合征; 连接酶; 患者; 蛋白; 泛素; 5号染色体; 短串联重复序列;