Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
Bingqing YuZhaoxiang LiuYinjie GaoJiang-Feng MaoXi WangMing HaoWanlu MaQibin HuangRui ZhangMin NieXueyan WuPublished in: Clinical endocrinology (2018)
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.