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...