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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

Successful therapeutic transplantation of revertant skin in epidermolysis bullosa.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

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