PMC · DOI:10.1016/j.gendis.2025.101792·August 7, 2025
Compound heterozygous mutations in BBS7 cause kidney abnormalities in Bardet-Biedl syndrome
Jie Min, Rong Xiao, Qian Fu, Yue Huang, Hui Wang
Abstract
Linked entities
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
Figures7
Click any figure to enlarge with its caption.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6
Figure 7Peer Reviews
No public reviews on file for this paper yet. If you reviewed it on a platform where reviews are public (OpenReview, ICLR, NeurIPS, ICML), you can paste yours below so the community can read it here.
Videos
No videos yet. Explain this paper in a talk, walkthrough, or lecture? Add one.
Taxonomy
TopicsGenetic and Kidney Cyst Diseases · Genetic Syndromes and Imprinting · Hedgehog Signaling Pathway Studies