Phenotypic Heterogeneity in Bullous Congenital Ichthyosiform Erythroderma

Somatic mosaicism and cancer: inference based on a conditional Luria–Delbrück distribution

“…In the mosaic individuals, 0.2-25% of leukocytes carried the mutation, showing wide variability in the level of mosaicism associated with germline transmission. Several other studies have found significant frequencies of somatic mosaicism in genetic diseases, including retinoblastoma (Sippel et al, 1998), familial adenomatous polyposis (Farrington and Dunlop, 1999), and various skin disorders (Nomura et al, 2001;Paller, 2001). Accurate genetic counseling requires attention to mosaicism to assess the risks of familial transmission (Gottlieb et al, 2001).…”