Confirmation of the origin of NISCH syndrome
Détails
ID Serval
serval:BIB_E8C7C2F60D40
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Confirmation of the origin of NISCH syndrome
Périodique
Human Mutation
ISSN
1098-1004 (Electronic)
Statut éditorial
Publié
Date de publication
05/2006
Volume
27
Numéro
5
Pages
408-10
Notes
Case Reports
Journal Article --- Old month value: May
Journal Article --- Old month value: May
Résumé
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.
Mots-clé
Adolescent
Cholangitis, Sclerosing/diagnosis/*genetics
Female
Frameshift Mutation
Humans
Ichthyosis/diagnosis/*genetics
Membrane Proteins/*genetics/metabolism
Skin/cytology
Syndrome
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 17:11