一例SOX10基因缺失所致的Waardenburg综合征2型合并低促性腺激素性性腺功能减退症的诊断和基因检测分析
王思琪, 陈阳, 罗宽宏, 史宁杰, 肖康丽, 崔振海, 曾天舒, 黎慧清
Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion
Siqi Wang, Yang Chen, Kuanhong Luo, Ningjie Shi, Kangli Xiao, Zhenhai Cui, Tianshu Zeng, Huiqing Li
遗传 . 2022, (12): 1158 -1166 .  DOI: 10.16288/j.yczz.22-161