Journal of the European Academy of Dermatology and Venereology · 2001 · 15 citations · 3 references
MedicineDermatologyGeneticsDermatopathologyGenodermatosesHuman GeneticsPediatric DermatopathologySyndromic GenodermatosesMutationSkin Genodermatoses
Erythrokeratolysis hiemalis is described as a rare autosomal dominant genodermatosis as first reported from the Oudtshoorn district of Cape Provence in South Africa, among European immigrant families. Sporadic cases have since been identified in other countries, often with a familial link to the Oudtshoorn cluster. We describe the first case observed in Denmark, presumably the result of a spontaneous mutation.
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Michelle Starfield, Hans Christian Hennies, Martin Jung et al. · The American Journal of Human Genetics · 1997 · 41 citations · Full text