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
Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Alsafri MS et al.
Acta Dermato-venereologica, 2020
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease.
Nagtzaam IF et al.
The British Journal of Dermatology, 2018
[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
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
Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry.
Chang YT et al.
The British Journal of Dermatology, 2014
Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.
Kirchmeier P et al.
The British Journal of Dermatology, 2014
Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
Paganelli M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
Nagtzaam IF et al.
The British Journal of Dermatology, 2010
Confirmation of the origin of NISCH syndrome.
Feldmeyer L et al.
Human Mutation, 2006
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