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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Détails bibliographiques
Publié dans:J Endocr Soc
Auteurs principaux: Smith, Pamela, Bayliss, Susan, Shinawi, Marwan, Gottesman, Gary, McAlister, William, Sugarman, Jeffrey, Whyte, Michael, Arbelaez, Ana Maria
Format: Artigo
Langue:Inglês
Publié: Endocrine Society 2019
Sujets:
Bone and Mineral Metabolism
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552376/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-LB085
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