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Showing 1 to 1 of 1 for “"upd(7)mat"”.
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Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms
… of the fifth digits. A molecular genetic confirmation of the clinical diagnosis is currently feasible in approximately half of the patients: While in 7-10% of patients a maternal uniparental disomy of chromosome 7 (upd(7)mat) is detectable, in ca. 40% of patients a hypomethylation of the ICR1 in …