Review
Jul 2026
Dose matters: haploinsufficiency in osteogenesis imperfecta.
This Review addresses this distinct patient group by recognizing the diverse facets of clinical burden, genetic landscape, bone pathophysiology, disease models and emerging treatment options by defining knowledge gaps that future investigations of this disease should aim to address.
Anastasia Sclocco, Wenyan Yang, Laura Ventura et al.
· Nature Reviews Endocrinology · 0 citations