Associated Papers
Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature.
Kalmár T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.
Cheng C et al.
Bmc Medical Genomics, 2023
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Manti F et al.
Parkinsonism & Related Disorders, 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
DeMari J et al.
American Journal of Medical Genetics. Part A, 2016
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