Associated Papers
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
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
Morisada N et al.
Cen Case Reports, 2020
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