Abstract
Genomic Imprinting is defined as the expression of only one allele of a gene in a parent-of-origin specific way, its disturbance leads to an altered expression associated with specific syndromes. As the identification of multilocus methylation defects made the locus specific association questionable, molecular tests aiming on the identification of multiple loci should be implemented in routine diagnostics as they allow an efficient molecular characterization of patients with ambiguous phenotypes.
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Eggermann, T., Soellner, L., Bens, S. et al. Molekulargenetische Diagnostik von Imprinting-Erkrankungen. Biospektrum 19, 753–758 (2013). https://doi.org/10.1007/s12268-013-0388-8
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DOI: https://doi.org/10.1007/s12268-013-0388-8