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- W4242010058 abstract "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 manifestation of autosomal dominant genodermatosis. This variant is characterized by a more diffuse clinical presentation of the disease, and a very marked linear pattern can be recognized. An explanation of this phenotype is a germline mutation of the gene manifests after a postzygotic mutation leading to double inactivation of the gene. The severe linear manifestation then reflects a doubling of the genetic burden. We present a number of clinical cases to demonstrate this phenomenon, and we present a case of the segmental Naegeli-Franceschetti-Jadassohn syndrome born to a mother with the diffuse manifestation of the disorder. Am. J. Med. Genet. 85:351–354, 1999 © 1999 Wiley-Liss, Inc." @default.
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- W4242010058 date "1999-08-06" @default.
- W4242010058 modified "2023-09-26" @default.
- W4242010058 title "Segmental forms of autosomal dominant skin disorders: The puzzle of mosaicism" @default.
- W4242010058 doi "https://doi.org/10.1002/(sici)1096-8628(19990806)85:4<351::aid-ajmg8>3.3.co;2-s" @default.
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