Associated Papers
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 2024
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2019
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Oud MM et al.
Cilia, 2018
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M et al.
Human Mutation, 2013
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