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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
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
[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].
Szepetowski S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
Nagtzaam IF et al.
The British Journal of Dermatology, 2010
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
Select a paper to view details