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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
European Journal of Human Genetics Open Access 11 May 2016
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Prawitt, D., Enklaar, T., Gärtner-Rupprecht, B. et al. Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor. Nat Genet 37, 785–786 (2005). https://doi.org/10.1038/ng0805-785
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DOI: https://doi.org/10.1038/ng0805-785
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