Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
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DOI: 10.1002/humu.23354
Abstract: Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified… read more here.
Keywords: novel; functional characterization; sex development; nr5a1 variants ... See more keywords