Work

A novel nonsense mutation in the L1CAM gene responsible for X‐linked congenital hydrocephalus

Year: 2020

Type: article

Study design: Case Report

Source: The Journal of Gene Medicine

DOI: 10.1002/jgm.3180

Authors: Dewei Guo, Yuting Shi, Wenyan Jian, Yimei Fu, Hui Yang, Manhui Guo, Wenjing Yong, Gang Chen, Huan Deng, Yan Qin, Weihua Liao, Ruojin Yao

Institutions: Central South University, Xiangya Hospital Central South University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Natural Science Foundation of China

Award: G583125874

OpenAlex ID: W3010448431

FWCI: 3.077

Cites: 39

Cited by: 20

Related to: 10