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

• Päätekijät: Misun Yang (Tekijä), Jinsup Kim (Tekijä), Aram Yang (Tekijä), Jahyun Jang (Tekijä), Tae Yeon Jeon (Tekijä), Sung Yoon Cho (Tekijä), Dong-Kyu Jin (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Korean Society of Pediatric Endocrinology, 2018-12-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...