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Bianca Maler

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Open access Aug 2026

EP289 - ECE_3799 - Recognizing X-linked hypophosphatemia: the role of family screening in patients with short stature

This case series demonstrates that recognition of hypophosphatemia in a single patient with short stature should prompt thorough family history assessment, pedigree analysis, and targeted family screening, and early identification of XLH allows timely treatment and may prevent irreversible skeletal complications and lo...

M. Vlad, C. Dorogi, Bianca Maler · 0 citations

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