A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets

• Váldodahkkit: Misun Yang (Dahkki), Jinsup Kim (Dahkki), Aram Yang (Dahkki), Jahyun Jang (Dahkki), Tae Yeon Jeon (Dahkki), Sung Yoon Cho (Dahkki), Dong-Kyu Jin (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Korean Society of Pediatric Endocrinology, 2018-12-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...