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Lo screening delle malattie genetiche del surrene

Riassunto

L’analisi genetica sta assumendo un’importanza crescente nell’ambito della patologia surrenalica sia per l’identificazione dei geni responsabili di sindromi note da tempo, ad esempio del morbo di von Hippel-Lindau, sia per il riconoscimento di nuove entità cliniche trasmesse in maniera ereditaria, ad esempio il complesso di Carney. Questo articolo si propone di passare in rassegna le patologie surrenaliche in cui è stata identificata una base genetica e illustrare le metodiche di analisi genetica più appropriate.

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Giraldi, F.P. Lo screening delle malattie genetiche del surrene. L’Endocrinologo 7, 40–61 (2006). https://doi.org/10.1007/BF03345946

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