Open access
Aug 2026
EP215 - ECE_3036 - From symptoms to sequencing: a case of hypophosphatemic osteomalacia with a novel genetic variant
This case describes a novel GATM variant in a patient with hypophosphatemic osteomalacia, which underscores the importance of thorough evaluation for early diagnosis and targeted management to achieve better outcomes.
Smritimayee Panda, Pragya Kafley, Vaibhav Singhal et al.
· European Journal of Endocrin... · 0 citations