Genodermatoses de l'epiderme resultant de mutations des keratines. [Inherited abnormalities of the epidermis caused by mutation of keratins]

Détails

ID Serval
serval:BIB_32A59909358B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genodermatoses de l'epiderme resultant de mutations des keratines. [Inherited abnormalities of the epidermis caused by mutation of keratins]
Périodique
Annales de Dermatologie et de Venereologie
Auteur(s)
Hohl  D.
ISSN
0151-9638 (Print)
Statut éditorial
Publié
Date de publication
1995
Volume
122
Numéro
4
Pages
162-6
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Résumé
The recent identification of keratin mutations as a cause of hereditary disorders of keratinization stresses the importance of an intact cytoskeleton of keratinocytes. Four disorders have reported to be caused by keratin mutations so far: epidermolysis bullosa simplex, bullous congenital ichthyosiform erythroderma, ichthyosis bullosa and epidermolytic palmoplantar hyperkeratosis. Molecular genetic diagnosis of keratin disorders is being introduced into the clinical routine and prenatal diagnosis is possible after 10 weeks of gestation.
Mots-clé
Epidermis Female Humans Keratinocytes/chemistry Keratins/chemistry/*genetics Male Molecular Biology *Mutation Pregnancy Prenatal Diagnosis Skin Diseases/*genetics
Pubmed
Web of science
Création de la notice
25/01/2008 16:36
Dernière modification de la notice
20/08/2019 13:18
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