A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report
Citation of this paper:SHEN Jin-feng,CAO Yan,SHUAI Lan-jun,WU Xiao-chuan*.A novel pathogenic mutation of BBS5 in atypical Bardet-Biedl syndrome patient with prominent clinical manifestation of chronic renal failure: case report[J].Chinese Journal of Clinical Medicine,2018,25(4):676-678