Article
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.
Clinical genetics - 1 Jun 2008
Stuhrmann M, Hennies H C, Bukhari I A, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda M C, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith E-H A
Abstract excerpt
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families...
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