Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
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DOI: 10.1002/mgg3.1880
Abstract: De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur preâzygotically in parental germ cells, the recurrence risk might be higher. Still, the… read more here.
Keywords: intellectual disability; disability syndromes; germline mosaicism; novo variants ... See more keywords