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A novel de novo mosaic mutation in PHEX 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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| Yayımlandı: | Ann Pediatr Endocrinol Metab |
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| Asıl Yazarlar: | , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Korean Society of Pediatric Endocrinology
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6312911/ https://ncbi.nlm.nih.gov/pubmed/30599486 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2018.23.4.229 |
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