Associated Papers
[Prenatal phenotype and genetic analysis of two fetuses with Bardet-Biedl syndrome].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Orlova M et al.
Frontiers in Genetics, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome.
Tao T et al.
European Journal of Ophthalmology, 2022
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.
Tao T et al.
International Ophthalmology, 2020
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
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