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
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm BM et al.
Human Genomics, 2017
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I et al.
American Journal of Human Genetics, 2012
Select a paper to view details