Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

Abstract excerpt

Autosomal dominant inherited disorders of the skin sometimes present as a segmental phenotype. In recent years molecular studies have demonstrated that genetic mosaicism leads to such a clinical manifestation. In general the skin outside the segmental disorder is normal. This rather common variant of segmental manifestation has been termed type 1. Recently, Happle delineated a second type of segmental...

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