Associated Papers
A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature.
Zeineddin S et al.
Bmc Neurology, 2024
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y et al.
Science Advances, 2022
35921411 (PubMed )
Supplement: sciadv.abm5578_sm.pdf
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Kozina AA et al.
Molecular Genetics & Genomic Medicine, 2020
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