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Acta 108 ZaffagniniM.FermaniS.CostaA.LemaireS

Future efforts must therefore prioritize the establishment of technical standards, enhanced multi-disciplinary integration, and expanded cross-center collaboration

It is induced by mutations in the gene encoding 3-hydroxysterol- 7 -reductase (DHCR7), the enzyme catalyzing cholesterol formation by 7-dehydrocholesterol reduction