Mutationen im POR-Gen können zu Störungen der Steroidsynthese führen, die ganz unterschiedliche klinische Ausmaße annehmen kann. Neben diesen Störungen werden häufig auch Funktionsstörung beim Metabolismus toxischer Substanzen und Medikamenten beobachtet.
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OMIM.ORG article Omim 613571 |