Kartierung und molekulare Analyse erblicher Hautkrankheiten. Stand der Forschung [Mapping and molecular analysis of genodermatoses - an up-date]

Item Type:	Review
Title:	Kartierung und molekulare Analyse erblicher Hautkrankheiten. Stand der Forschung [Mapping and molecular analysis of genodermatoses - an up-date]
Creators Name:	Kuester, W. and Hennies, H.C. and Happle, R.
Abstract:	The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
Keywords:	Clinical Genetics, Gene Mapping, Genodermatoses, Molecular Analysis
Source:	Hautarzt
ISSN:	0017-8470
Publisher:	Springer
Volume:	51
Number:	12
Page Range:	906-914
Date:	December 2000
Official Publication:	https://doi.org/10.1007/s001050051238
PubMed:	View item in PubMed

Repository Staff Only: item control page