NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes

Faienza, MF; Chiarito, M; Baldinotti, F; Canale, D; Savino, C; Paradies, G; Corica, D; Romeo, C; Tyutyusheva, N; Caligo, MA; Wasniewska, MG; Bertelloni, S

Faienza, MF (corresponding author), Univ Aldo Moro Bari, Dept Biomed Sci & Human Oncol, Pediat Unit, Piazza G Cesare 11, I-70124 Bari, Italy.

SEXUAL DEVELOPMENT, 2020; 13 (5-6): 258

Abstract

NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and......

Full Text Link