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Евгения Сергеевна Климова

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Sep 2026

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.

The need to screen WES/WGS data in patients with XLH not only for PHEX variants, but also for variants in other phosphate-regulating genes before initiating burosumab therapy is underscored, particularly when biochemical parameters are inconsistent with "classical" XLH.

M. Sharova, Евгения Сергеевна Климова, A. Filatova et al. · 0 citations

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