Genetic insights into neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Abstract Background Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome is a rare autosomal recessive syndrome due to mutations in the claudin-1 gene (CLDN1). Defective expression of claudin-1 protein manifests with involvement of the liver and skin. Phenotypic expression of the disease vari...
Furkejuvvon:
| Váldodahkkit: | , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
SpringerOpen
2025-12-01
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| Ráidu: | Egyptian Liver Journal |
| Fáttát: | |
| Liŋkkat: | https://doi.org/10.1186/s43066-025-00473-5 |
| Fáddágilkorat: |
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