Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
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Author / Creator
Gao, Shiyang , Zhang, Qianwen , Ding, Yu , Wang, Libo , Li, Zhiying , Hu, Feihan , Yao, Ru-en , Yu, Tingting , Chang, Guoying and Wang, Xiumin
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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...
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Full title
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
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TN_cdi_doaj_primary_oai_doaj_org_article_2eaf7a9dcdbe465184b42f9cf01c5e8d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2eaf7a9dcdbe465184b42f9cf01c5e8d
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03150-9
