Associated Papers
A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing.
Mamivand A et al.
Clinical and Experimental Dermatology, 2023
PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.
Hu B et al.
Clinical and Experimental Dermatology, 2023
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Temel ŞG et al.
Cell and Tissue Research, 2019
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z et al.
American Journal of Human Genetics, 2015
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