Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome Caused by a Novel CLDN1 Mutation: A Case Report and Literature Review
October 2025
in “
Clinical and Experimental Pediatrics
”
Studysummary In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer