Article
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
The Journal of investigative dermatology - 1 Jun 2009
Eckl Katja-Martina, de Juanes Silvia, Kurtenbach Janine, Nätebus Marc, Lugassy Jenny, Oji Vinzenz, Traupe Heiko, Preil Marie-Luise, Martínez Francisco, Smolle Josef, Harel Avikam, Krieg Peter, Sprecher Eli, Hennies Hans C
Abstract excerpt
In recent years several new genes for autosomal recessive congenital ichthyosis (ARCI) have been identified. However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of severe disorders of keratinization. ARCI is characterized by intense scaling of the whole integument often associated with erythema. We and others have shown that...
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