Associated Papers
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration.
Sangermano R et al.
Research Square, 2025
Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
Gillesse E et al.
American Journal of Medical Genetics. Part A, 2024
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK et al.
Ophthalmic Genetics, 2024
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
Morisada N et al.
Cen Case Reports, 2020
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.
Katagiri S et al.
Scientific Reports, 2018
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