Novel<i><scp>NR</scp>5A1</i>mutations found in Chinese patients with 46,<scp>XY</scp>disorders of sex development

Abstract

Four novel mutations in the NR5A1 gene were identified in our cohort with 46, XY DSD, expanding the spectrum of NR5A1 gene mutations. All patients with NR5A1 rare variants had normal adrenal function and showed genital defects.