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Confirmation of the origin of NISCH syndrome

✍ Scribed by L. Feldmeyer; M. Huber; F. Fellmann; J.S. Beckmann; E. Frenk; D. Hohl

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 150 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20333

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Haig H. Kazazian 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. Hum Mutat 27(5), 408-410, 2006. r

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