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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Archive ouverte | Mackay, Deborah, J G | CCSD

International audience. Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differen...

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Archive ouverte | Eggermann, Katja | CCSD

International audience. Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and com...

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Archive ouverte | Mackay, Deborah | CCSD

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