Article
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
Hormone research - 1 Apr 2009
Eggermann Thomas
Abstract excerpt
Progress in the identification of the (epi)genetic basis of imprinting disorders has provided greater insight into the central role of imprinted genes in regular human growth. In addition to the well-known Prader-Willi, Angelman, and Beckwith-Wiedemann syndromes, imprinting disturbances have recently been identified in transient neonatal diabetes mellitus, uniparental disomy (14) syndromes and Silver- Russell...
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