一例ALMS1基因复合杂合突变所致的Alstrom综合征的诊疗和基因检测分析
杨慧杰, 李德, 白卉泠, 张铭, 黄俊, 袁小青
Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1
Huijie Yang, De Li, Huiling Bai, Ming Zhang, Jun Huang, Xiaoqing Yuan
遗传 . 2022, (12): 1148 -1157 .  DOI: 10.16288/j.yczz.22-217