Resources

Neonatal Ichthyosis and sclerosing cholangitis (NISCH) syndrome with a novel Claudin-1 (CLDN1) mutation: A report from India

Indian Journal of Dermatology, Venereology and Leprology, August 2023

Mutations in the Claudin-1 (CLDN1, Gene ID: 9076) gene are known to result in the autosomal-recessive neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome (OMIM: 607626).1 The long-term prognosis depends on the severity of the liver disease, which is partly dependent on the mutation present.2 Other ichthyoses with neonatal cholestasis include arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, type 2 Gaucher’s disease, and MEDNIK syndrome (mental retardation, enteropathy, deafness, neuropathy, ichthyosis and keratodermia).3

Read More

  https://ijdvl.com/neonatal-ichthyosis-and-sclerosing-cholangitis-nisch-syndrome-with-a-novel-claudin-1-cldn1-mutation-a-report-from-india/

 

Considering Genomic Research?

    Fields marked in * is mandatory to fill
     
     
     

    2024 © MedGenome • All Rights Reserved
    Request a Quote