
SYNGAP1基因变异相关常染色体显性智力障碍5型8例并文献复习
Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review
智力障碍 / SYNGAP1基因 / 发育迟缓 / 癫痫 / 儿童
Mental retardation / SYNGAP1 gene / Developmental retardation / Epilepsy / Child