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

Details

Serval ID
serval:BIB_32A59909358B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genodermatoses de l'epiderme resultant de mutations des keratines. [Inherited abnormalities of the epidermis caused by mutation of keratins]
Journal
Annales de Dermatologie et de Venereologie
Author(s)
Hohl  D.
ISSN
0151-9638 (Print)
Publication state
Published
Issued date
1995
Volume
122
Number
4
Pages
162-6
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Abstract
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.
Keywords
Epidermis Female Humans Keratinocytes/chemistry Keratins/chemistry/*genetics Male Molecular Biology *Mutation Pregnancy Prenatal Diagnosis Skin Diseases/*genetics
Pubmed
Web of science
Create date
25/01/2008 16:36
Last modification date
20/08/2019 13:18
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