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

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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 f... ...