Publications by Roberto Salvatierra

Publications by authors named "Roberto Salvatierra"

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Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Mariana Del Pino Gisela Viterbo María Agustina Valentini Roberto Salvatierra Florencia Belleri

Am J Med Genet A

February 2025

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic, activating pathogenic variants in HRAS, NRAS, or KRAS. It is characterized by congenital epidermal, melanocytic, or sebaceous nevi, elevated FGF23 levels that cause renal phosphate wasting and rickets, and focal bone lesions. We report a 13-year-old girl with CSHS from Argentina.

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