Universität zu Köln

Tantcheva-Poor, Iliana, Oji, Vinzenz ORCID: 0000-0003-1380-4828 and Has, Cristina ORCID: 0000-0001-6066-507X (2016). A multistep approach to the diagnosis of rare genodermatoses. J. Dtsch. Dermatol. Ges., 14 (10). S. 969 - 986. HOBOKEN: WILEY-BLACKWELL. ISSN 1610-0387

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Abstract

Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications. In order to support the clinicians' interest for this complex and rapidly developing field of dermatology, we are going to present a multistep approach with some useful clues for the evaluation of patients suspected of having a genodermatosis.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Tantcheva-Poor, Iliana UNSPECIFIED UNSPECIFIED UNSPECIFIED Oji, Vinzenz UNSPECIFIED orcid.org/0000-0003-1380-4828 UNSPECIFIED Has, Cristina UNSPECIFIED orcid.org/0000-0001-6066-507X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-261572
DOI:	10.1111/ddg.13140
Journal or Publication Title:	J. Dtsch. Dermatol. Ges.
Volume:	14
Number:	10
Page Range:	S. 969 - 986
Date:	2016
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1610-0387
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MOLECULAR DIAGNOSTICS; FAMILY-HISTORY; ICHTHYOSIS; MUTATIONS; DERMATOLOGIST; MOSAICISM; REVERSION; CANCER Multiple languages Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26157