Tag: VPS13B

VPS13B gene variation and clinical phenotype of Cohen syndrome in a Chinese Han family

Authors: Li Ruimin,  Guo Qingge,  Li Ya,  You Ya,  Lei Bo DOI: 10.3760/cma.j.cn115989-20230508-00168 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 871-878. Abstract                           【Download PDF】 【Read Full Text】 Objective To analyze the pathogenicity and clinical characteristics of patients with Cohen syndrome caused […]