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Post-zygotic mutation (PZMs) are acquired after the zygote forms, as opposed to germline mutations that are inherited from the parents. Therefore, PZMs are not present in every cell of the organism, which is therefore a mosaic individual. It was recently demonstrated that PZMs contribute significantly to ASD risk. The most relevant studies focusing on the detection of PZMs are represented along with the genes seen to carry different PZMs.
