A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7
一例由BBS7基因杂合点变异和涉及BBS7基因的拷贝数变异引起的罕见Bardet-Biedl综合征病例
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000547307
Yang, Xingkun; Zhou, Xiaoqiang; Zhou, Cheng; Li, Chao; Wu, Shuijuan; Zhou, Yasi; Du, Jiayue; Guo, Xiaoling; Huang, Xiang