Article

Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese Patients

2023-10-06

Abstract excerpt

<title>Abstract</title> <p>Background Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS....

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Literature Corpus work: 9e48461a-624a-58f1-ab29-03b41f87792c
DOI: 10.21203/rs.3.rs-3313682/v1

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