Article

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes

2022-09-15

Abstract excerpt

PURPOSE. Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of this study was to describe the clinical and genetic features of a cohort of Chinese patients carrying biallelic BBS gene variants. METHODS. We recruited 34 patients from 31 unrelated pedigrees who carried biallelic pathogenic variants in BBS genes. All patients underwent ophthalmic and systematic evaluations, as well as comprehensive...

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Literature Corpus work: 08d57478-7763-5542-8e4d-381f8a71be32
DOI: 10.21203/rs.3.rs-1966876/v1

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