Associated Papers
Ift43 Controls the Ciliary Levels of Gli2 and Gli3.
Stuck MW et al.
Biorxiv : the Preprint Server for Biology, 2026
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Doornbos C et al.
European Journal of Human Genetics : Ejhg, 2021
[Clinical features and mutational analysis of a case with Sensenbrenner syndrome].
Jia S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P et al.
Human Molecular Genetics, 2017
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I et al.
Cilia, 2017
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH et al.
Journal of Medical Genetics, 2011
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