Article
Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023
Happle Rudolf
Abstract excerpt
In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, such overlaying mosaic involvement may coexist with disseminated mosaicism, for example, in neurofibromatosis or tuberous sclerosis. In other phenotypes, however,...
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