Article
[Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Apr 2001
Happle R
Abstract excerpt
The prevailing theory says that mosaic forms of autosomal dominant skin diseases originate from postzygotic new mutations. This theory is no longer generally valid. According to a new rule of dichotomy, we can distinguish two types of segmental manifestations. The type 1 reflects heterozygosity for a postzygotic new mutation, whereas the type 2 results from loss of the corresponding wildtype allele occurring in a...
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