Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

被引：0
|
作者：
Shiyang Gao
Qianwen Zhang
Yu Ding
Libo Wang
Zhiying Li
Feihan Hu
Ru-en Yao
Tingting Yu
Guoying Chang
Xiumin Wang
机构：
[1] Shanghai Children’s Medical Center,Department of Endocrinology, Metabolism and Genetics
[2] Shanghai Jiao Tong University School of Medicine,Department of Genetic Molecular Diagnostic Laboratory
[3] Shanghai Children’s Medical Center,undefined
[4] Shanghai Jiao Tong University School of Medicine,undefined
来源：
Orphanet Journal of Rare Diseases | / 19卷
关键词：
Bardet-Biedl syndrome (BBS); Rare disease; Next-generation sequencing; Gene variation; Genotype–phenotype correlation;
D O I：
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学科分类号：
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