Confirmation of the origin of NISCH syndrome

Human Mutation
L FeldmeyerD Hohl

Abstract

Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.

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Citations

Jun 22, 2010·Archives of Dermatological Research·Nina KirschnerJohanna M Brandner
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Feb 2, 2012·The Journal of Clinical Investigation·Akiharu KuboMasayuki Amagai
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Mar 3, 2012·Experimental Dermatology·Nina KirschnerJohanna M Brandner
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