Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene
Xin MEI, Xiao-Liang HE, Wei-Na GAO, Meng-Yao WANG, Jing-Wen SHEN, Jing WEI, Yun XUE
Chinese Journal of Contemporary Pediatrics . 2025, (6): 740 -745 .  DOI: 10.7499/j.issn.1008-8830.2412119