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
    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
    Discuss this study in the Community →

    Research cited in this study

    3 / 3 results