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A. Ramalho

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Case report Open access 2026

X-linked hypophosphatemic rickets: case report with perspectives and challenges.

X-linked dominant hypophosphatemic rickets (XLH) is a rare genetic disorder caused by mutations in the PHEX gene and characterized by chronic hypophosphatemia due to dysregulation of fibroblast growth factor 23 (FGF23). This condition leads to bone deformities, growth impairment, and chronic pain. Conventional treatmen...

Beatriz Almeida Ribeiro, Henrique Massashi Soga, F. T. de Lima et al. · 0 citations

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