Associated Papers
Expansion of Phenotyping and Genotypic Spectra of KIF7 -Related Intellectual Disability: Case Report and Review of Literature.
Wongong R et al.
American Journal of Medical Genetics. Part A, 2026
The ciliary kinesin KIF7 controls the development of the cerebral cortex by acting differentially on SHH signaling in dorsal and ventral forebrain.
Pedraza M et al.
Elife, 2025
Retinitis Pigmentosa Sine Pigmento in a Patient With a Heterozygous Mutation on the KIF7 Gene: A Case Report.
Ruiz-Matos SJ et al.
Cureus, 2024
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
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Terhune EA et al.
Human Mutation, 2021
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R et al.
European Journal of Human Genetics : Ejhg, 2018
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
Ibisler A et al.
Molecular Syndromology, 2015
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A et al.
Journal of Medical Genetics, 2012
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Ali BR et al.
Orphanet Journal of Rare Diseases, 2012
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A et al.
Nature Genetics, 2011
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