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A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody

2024-07-03

Abstract excerpt

<title>Abstract</title> <p>Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first C...

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Literature Corpus work
2c1a47e1-1955-5cc3-b8c2-9873f1dff24f
DOI
10.21203/rs.3.rs-4407869/v1
Open publication

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A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibodyDOI 10.21203/rs.3.rs-4407869/v1
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