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

• Main Authors: Misun Yang (Author), Jinsup Kim (Author), Aram Yang (Author), Jahyun Jang (Author), Tae Yeon Jeon (Author), Sung Yoon Cho (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...