Associated Papers
Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.
Ghosh U et al.
Clinical and Experimental Pediatrics, 2025
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Eskin-Schwartz M et al.
Clinical Genetics, 2024
A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.
Cai L et al.
Clinical and Experimental Dermatology, 2023
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Mohamad J et al.
American Journal of Medical Genetics. Part A, 2022
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