B-308 Multigenerational Consanguinity and Genomic Absence of Heterozygosity (AOH) Burden: A Case Report
Among the various types of genomic variations described in the literature, absence of heterozygosity (AOH) events are among the most significant, affecting large regions of the genome. Commonly associated with clinical findings, particularly in carcinogenesis (where they are termed loss of heterozygosity, LOH), A...