Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Genes
Mellone, Simona S; Bertelli, Enrica E; Roviglione, Barbara B; Vurchio, Denise D; Ronzani, Sara S; Secco, Andrea A; Felici, Enrico E; Strozzi, Mariachiara Martina MM; Schena, Federico F; Giordano, Mara M