Der isolierte Wachstumshormonmangel vom Typ 2 ist eine autosomal dominante Erkrankung, welche durch Mutationen im GH1-Gen ausgelöst werden. Klinisch ist das Bild durch eine Wachstumsretardierung und eine verzögerte Knochenreife charakterisiert. Eine Substitutionsbehandlung ist erfolgreich.
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