22
Jul
Pure duplication of distal 19p13.3
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The genotype-phenotype correlation of 19p13.3 duplications reported in literature is difficult to characterize because of the inconsistency in the size and gene content. Many reported duplications are the result of a translocation and thus have contributory genomic deletion contaminating the phenotype. Bain et al. introduce a distal 2.6 Mb duplication... Read More
