Associated Papers
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S et al.
Orphanet Journal of Rare Diseases, 2024
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J et al.
Eye (london, England), 2023
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z et al.
Bmc Medical Genomics, 2021
Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.
Meng X et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K et al.
The British Journal of Ophthalmology, 2020
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