一例BBS12基因复合杂合突变导致Bardet-Biedl综合征的诊断和基因检测分析
沈艳婷, 凌雁, 陆志强, 李晓牧, 卞华, 颜红梅, 夏明锋, 常新霞, 蒋晶晶, 张晶, 高鑫
Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene
Yanting Shen, Yan Ling, Zhiqiang Lu, Xiaomu Li, Hua Bian, Hongmei Yan, Mingfeng Xia, Xinxia Chang, Jingjing Jiang, Jing Zhang, Xin Gao
遗传
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2022, (10): 975
-982
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DOI: 10.16288/j.yczz.22-182
