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SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

Background: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaicism of a RAS family gene (ie. HRAS, NRAS, KRAS). CSHS features: 1) congenital epidermal, melanocytic, or sebaceous nevi, 2) elevated circulating FGF23 levels that cause renal phosphate wasting and skeletal hyp...

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Detalles Bibliográficos
Autores principales:	Smith, Pamela, Bayliss, Susan, Shinawi, Marwan, Gottesman, Gary, McAlister, William, Sugarman, Jeffrey, Whyte, Michael, Arbelaez, Ana Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Bone and Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552376/ http://dx.doi.org/10.1210/js.2019-SAT-LB085

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