Title : Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).

Pub. Date : 2021 Sep

PMID : 33984517






2 Functional Relationships(s)
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1 To confirm pathogenicity of the HSD17B3 variants, we performed transient transfection of HEK-293 cells and measured conversion of radiolabeled androstenedione to testosterone as previously described. Androstenedione hydroxysteroid 17-beta dehydrogenase 3 Homo sapiens
2 Both HSD17B3 variants decreased conversion of radiolabeled androstenedione to testosterone. Androstenedione hydroxysteroid 17-beta dehydrogenase 3 Homo sapiens