中国当代儿科杂志
  中文版
  English Version
  ISSN 2096-9228(online)
ISSN 1008-8830(print)
CN 43-1301/R
 
中国当代儿科杂志  2023, Vol. 25 Issue (5): 489-496    DOI:10.7499/j.issn.1008-8830.2301054
论著·临床研究 最新目录| 下期目录| 过刊浏览| 高级检索 |
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
王晓乐1, 田亚男2, 陈晨1, 彭镜1,3
1.中南大学湘雅医院儿科,湖南长沙 410008
2.常德市第一人民医院儿科,湖南常德 415003
3.湖南省儿童脑发育障碍性疾病临床医学研究中心,湖南长沙 410008
Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review
WANG Xiao-Le1, TIAN Ya-Nan2, CHEN Chen1, PENG Jing1,3
.Department of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China
.Clinical Research Center for Children's Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China