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Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: A case report
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function RAS mutations . Affected patients have segmental epidermal nevi, dysplastic cortical bony lesions, and fibroblast growth factor-23 (FGF23)–mediated hypophosphatemic rickets. He...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502709/ https://www.ncbi.nlm.nih.gov/pubmed/34660853 http://dx.doi.org/10.1016/j.bonr.2021.101138 |