A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

Rita Bertalan (1) , Osnat Admoni (2) , Anu Bashamboo (1) , Yardena Tenenbaum-Rakover (2) , Ken Mcelreavey (1)

1 Génétique du Développement humain - Human developmental genetics
2 Ha’Emek Medical Center [Afula, Israel]

Domaines: Biologie de la reproduction

Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Ken Mcelreavey. A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. Clinical Endocrinology, 2017, 87 (4), pp.407-408. ⟨10.1111/cen.13396⟩. ⟨pasteur-03521843⟩