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.
· Pediatric nephrology (Berlin... · 0 citations