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...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2021-12-01
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Series: | Bone Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187221003958 |