Article
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
The Journal of investigative dermatology - 1 Nov 1997
Richard G, Lin J P, Smith L, Whyte Y M, Itin P, Wollina U, Epstein E, Hohl D, Giroux J M, Charnas L, Bale S J, DiGiovanna J J
Abstract excerpt
Erythrokeratodermias are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overlapping features including hyperkeratosis and erythema. We ascertained five extended pedigrees with different phenotypes for a linkage study. Three families presented with localized erythrokeratodermia variabilis, and one with erythrokeratodermia and ataxia. Another family had Greither disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.