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Das Silver-Russell-Syndrom (SRS) ist ein intrauterines und postnatales Kleinwuchssyndrom und gehört zur Gruppe der Imprinting-Erkrankungen. Diese Erkrankungsgruppe ist durch gleichartige molekulare Veränderungen charakterisiert, die elterlich geprägte Gene/Regionen betreffen („genomic imprinting“). Klinisch umfasst sie heterogene Entitäten, die sich durch Wachstumsstörungen, metabolische Veränderungen...
Abstract. Growth is a complex process which is in part genetically determined. Among other genetic causes, uniparental disomy (UPD), the exceptional inheritance of two homologous chromosomes from only one parent, may occasionally be detected. Recent insights have revealed that the molecular basis for the clinical features of UPD are specific human genes that are only monoallelically active, depending...
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