Tag: HGSNAT gene

Syndromic retinits pigmentosa caused by bi-allelic pathogenic variants in HGSNAT gene

Authors: Yao Fengxia,  Sun Zixi,  Zhang Weimin,  Sui Ruifang DOI: 10.3760/cma.j.cn115989-20220823-00386 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 884-885. 【Download PDF】 【Read Full Text】 Contributor Information Yao Fengxia Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China Sun Zixi Department of Ophthalmology, Peking Union […]