RNF216基因突变相关Gordon Holmes综合征的临床特征、基因分析及文献回顾 - 陈美平; 阳洪波; 潘慧; 冯逢; 朱以诚; 朱惠娟 (罕见病研究, 2023)
Keywords: 神经系统退行性疾病; cerebellar ataxia; 低促性腺性性腺功能减退症; 小脑共济失调; RNF216 gene; Gordon Holmes综合征; neurodegener-ative diseases; Gordon Holmes syndrome; hypogonadotropic hypogonadism; RNF216基因