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Statements

Subject Item
dbr:Ichthyosis-sclerosing_cholangitis_syndrome
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dbr:Neonatal_ichthyosis–sclerosing_cholangitis_syndrome
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dbr:Neonatal_ichthyosis–sclerosing_cholangitis_syndrome
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dbr:Neonatal_ichthyosis–sclerosing_cholangitis_syndrome
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rdfs:label
Neonatal ichthyosis–sclerosing cholangitis syndrome
rdfs:comment
Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome" and "ichthyosis–sclerosing cholangitis syndrome") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene.
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Neonatal ichthyosis–sclerosing cholangitis syndrome
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Neonatal ichthyosis–sclerosing cholangitis syndrome
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NISCH syndrome
dbo:abstract
Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome" and "ichthyosis–sclerosing cholangitis syndrome") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene.
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dbr:Ichthyosis,_leukocyte_vacuoles,_alopecia,_and_sclerosing_cholangitis
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