Associated Papers
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
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.
Davis AA et al.
Plastic and Reconstructive Surgery. Global Open, 2019
Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.
Subramanian S et al.
Pediatric Radiology, 2019
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
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