Associated Papers
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
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I et al.
American Journal of Human Genetics, 2012
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