Confirmation of the origin of NISCH syndrome
Details
Serval ID
serval:BIB_E8C7C2F60D40
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Confirmation of the origin of NISCH syndrome
Journal
Human Mutation
ISSN
1098-1004 (Electronic)
Publication state
Published
Issued date
05/2006
Volume
27
Number
5
Pages
408-10
Notes
Case Reports
Journal Article --- Old month value: May
Journal Article --- Old month value: May
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.
Keywords
Adolescent
Cholangitis, Sclerosing/diagnosis/*genetics
Female
Frameshift Mutation
Humans
Ichthyosis/diagnosis/*genetics
Membrane Proteins/*genetics/metabolism
Skin/cytology
Syndrome
Pubmed
Web of science
Create date
25/01/2008 17:17
Last modification date
20/08/2019 17:11