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...
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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2021-12-01
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| Serier: | Bone Reports |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S2352187221003958 |
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