A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short statur...
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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Korean Society of Pediatric Endocrinology
2018-12-01
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| Reeks: | Annals of Pediatric Endocrinology & Metabolism |
| Onderwerpen: | |
| Online toegang: | http://e-apem.org/upload/pdf/apem-2018-23-4-229.pdf |
| Tags: |
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