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Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the BBS10 Gene in Chinese People With Bardet Biedl syndrome

2025-07-17

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<title>Abstract</title> <p>Background Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, obesity, and polydactyly as cardinal features. This study aimed to characterize the clinical manifestations and genetic basis in a Chinese patient with BBS. Methods The study subject was a 23-year-old Han Chinese male who presented to the Maternal and Child Healt...

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Literature Corpus work: 6273f837-7b53-56c7-b279-79c32f627cb0
DOI: 10.21203/rs.3.rs-6824032/v1

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