Loss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as a mutational risk mechanism for autism spectr
In the child analyzed in this work, we suggest that the error occurred during the first meiotic division as the occurrence of two crossing-over events is the most probable explanation of the observed alleles at chromosomes 2 in the mother and child. Since UPDs might result due to different ...