This study contributes to a better understanding of the molecular defects of 3β-HSD and of the phenotypic heterogeneity associated with this enzymatic deficit. Conceptualization, E.M. and S.E.; methodology, E.M., D.T. and P.M.; software, E.M. and A.B.; writing—original draft preparation, E.M., S.E. and D.T.; writing—review and editing, A.B. and P.M. All authors have read and agreed to the published version of the manuscript.
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