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Renata Santarem de Oliveira

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Review Open access Sep 2026

Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort

X-linked hypophosphatemia (XLH) is a rare disorder caused by inactivating variants in the PHEX gene characterized by lifelong musculoskeletal and multisystemic complications. Despite its chronic nature, data on long-term outcomes in adults remain limited, and many patients may not receive appropriate care. Th...

L. Valadares, D. R. de Carvalho, F. S. Lopes et al. · 0 citations

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