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Author

P. Dabadghao

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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. · 0 citations

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