Craig F Munns, Han-Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man But, Alice Pik-Shan Kong, Pen-Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton-Bligh, Xiaoping Luo, Weibo Xia
X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life. XLH impacts physical function, mobility, and quality of life, and is associated with substantial socioeconomic burden and health care resource utilization...
June 2023: JBMR Plus