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Review Article

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review

Upasana Ghosh, Ankit Agrawal, Varunvenkat M Srinivasan, Rani Manisha, Umesh Shukla, Vikas Jain, Mayank Nilay, Harish Kumar

Neonatal ichthyosis-sclerosing cholangitis syndrome (NISCH) is an autosomal recessive disorder characterized by cholestasis, generalized ichthyosis, alopecia, and dental anomalies. As this is a rare syndrome, here we present a case caused by a novel mutation followed by a literature review of all published cases. This retrospective review includes all original articles on the clinical profiles of all 37 cases published through December 2024 using a PubMed search. The...

DOI: https://doi.org/10.3345/cep.2025.00906 [Accepted]

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