Open access
Aug 2026
EP1343 - ECE_3558 - Rare 5′-UTR variants creating new upstream open reading frames provide a potential novel genetic mechanism in congenital hypogonadotropic hypogonadism
Patients with CHH are enriched for rare 5′-UTR variants creating new uORFs in autosomal dominant genes compared to controls, underscoring the emerging role of non-coding variants in the genetic background of CHH.
Georgios Markantes, Jack M. Fu, Harrison Brand et al.
· European Journal of Endocrin... · 0 citations