CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes. Conclusions For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS. "/> 儿童Joubert综合征临床及遗传学分析
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): 497-501    DOI:10.7499/j.issn.1008-8830.2212069
论著·临床研究 最新目录| 下期目录| 过刊浏览| 高级检索 |
儿童Joubert综合征临床及遗传学分析
张广宇1,2, 赵云霞1, 赵会玲1, 唐国皓1, 王鹏亮1, 朱登纳1,2
1.郑州大学第三附属医院儿童康复科,河南郑州 450052
2.河南省小儿脑损伤重点实验室及河南省儿科疾病临床医学研究中心,河南郑州 450052
Clinical and genetic analyses of Joubert syndrome in children
ZHANG Guang-Yu1,2, ZHAO Yun-Xia1, ZHAO Hui-Ling1, TANG Guo-Hao1, WANG Peng-Liang1, ZHU Deng-Na1,2
.Department of Children's Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
.Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Zhengzhou 450052, China