A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature

• Main Authors: Chong Kun Cheon (Author), Hoon Sang Lee (Author), Su Yung Kim (Author), Min Jung Kwak (Author), Gu-Hwan Kim (Author), Han-Wook Yoo (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2014-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mut...