A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.

Author: Xiuya YU ¹ ; Liyuan HU ¹ ; Xu LIU ¹ ; Guodong ZHAN ¹ ; Mei MEI ¹ ; Huijun WANG ² ; Xiaohua ZHANG ³ ; Zilong QIU ⁴ ; Wenhao ZHOU ¹ ; Lin YANG ⁵
Author Information

1. Department of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
2. Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, 201102, China.
3. Department of Neurosurgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200127, China.
4. Institute of Neuroscience, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
5. Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, 201102, China. yanglin_fudan@163.com.
Publication Type:Case Reports
MeSH: Animals; Brain; growth & development; Child; Eyelids; abnormalities; Female; Humans; Intellectual Disability; genetics; Limb Deformities, Congenital; genetics; Mice; Microcephaly; genetics; Mutation, Missense; N-Myc Proto-Oncogene Protein; genetics; Tracheoesophageal Fistula; genetics
From: Neuroscience Bulletin 2018;34(5):854-858
CountryChina
Language:English