Article
The Clinical Spectrum of Mosaic Genetic Disease.
Genes - 24 Sept 2024
Geiger Hanabi, Furuta Yutaka, van Wyk Suné, Phillips John A, Tinker Rory J
Abstract excerpt
Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of genetic diseases with diverse genetic etiologies affecting every organ system. Mosaic genetic disease (MDG) is a spectrum that, on the extreme ends, enables survival from genetic severe disorders that would be lethal in a non-mosaic form. On...
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