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
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Mohamad J et al.
American Journal of Medical Genetics. Part A, 2022
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Salik D et al.
Pediatric Dermatology, 2022
NISCH syndrome: An extremely rare cause of neonatal cholestasis.
Izurieta Pacheco AC et al.
Journal of Hepatology, 2020
Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Alsafri MS et al.
Acta Dermato-venereologica, 2020
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Uitto J et al.
Acta Dermato-venereologica, 2020
Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Youssefian L et al.
The American Journal of Gastroenterology, 2017
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome with a novel Claudin-1 (CLDN1) mutation: A report from India.
Mathews J et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
Unveiling a novel gene mutation in neonatal ichthyosis-sclerosing cholangitis syndrome with progressive liver disease.
Danish M et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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