Associated Papers
Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.
Tedesco MG et al.
Genes, 2025
Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Blasius TL et al.
Journal of Cell Science, 2021
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M et al.
Bmc Pediatrics, 2020
Select a paper to view details