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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Aineistotyyppi: | Kirja |
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Korean Society of Pediatric Endocrinology,
2018-12-01T00:00:00Z.
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Nide 1 | Saatavissa |