A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia
Heliyon. 2024 Jul 23;10(15):e35058. doi: 10.1016/j.heliyon.2024.e35058. eCollection 2024 Aug 15. ABSTRACT BACKGROUND: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with …