Article
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
Dermatology (Basel, Switzerland) - 1 Jan 2011
Harboe Theresa Larriba, Willems Patrick, Jespersgaard Cathrine, Mølgaard Poulsen Marie Louise, Sørensen Flemming Brandt, Bisgaard Marie Luise
Abstract excerpt
Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmental Darier patients is complex, as risk of transmitting a nonsegmental phenotype to offspring is of unknown magnitude. We present the first in-depth molecular analysis...
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