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Autor:
Jared Kaplan, Steven Tommasini, Gang-Qing Yao, Meiling Zhu, Sayoko Nishimura, Sevanne Ghazarian, Angeliki Louvi, Karl Insogna
Publikováno v:
Journal of the Endocrine Society. 7
ContextX-linked hypophosphatemia (XLH) is a genetic disease, causing life-long hypophosphatemia due to overproduction of fibroblast growth factor 23 (FGF23). XLH is associated with Chiari malformations, cranial synostosis, and syringomyelia. FGF23 si