# Compound heterozygous mutations in BBS7 cause kidney abnormalities in Bardet-Biedl syndrome

**Authors:** Jie Min, Rong Xiao, Qian Fu, Yue Huang, Hui Wang

PMC · DOI: 10.1016/j.gendis.2025.101792 · 2025-08-07

## Full-text entities

- **Genes:** BBS7 (Bardet-Biedl syndrome 7) [NCBI Gene 55212] {aka BBS2L1}
- **Diseases:** Bardet-Biedl syndrome (MESH:D020788), kidney abnormalities (MESH:D007674)

## Figures

7 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12874413/full.md

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Source: https://tomesphere.com/paper/PMC12874413