☆ 4.6 Review

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

FRONTIERS IN GENETICS (2023)

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Summary: This study described the clinical and genetic features of Chinese patients with BBS gene variants, identified novel pathogenic variants, and determined the configuration of variation frequencies for each BBS gene in Chinese patients. The patients exhibited clinical heterogeneity and early and severe visual defects and retinal degeneration. Genetic analysis is crucial for diagnosis, genetic counseling, and future gene therapy.

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