H. Shibata

Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan.

McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by somatic gain-of-function variants in GNAS and frequently associated with fibrous dysplasia (FD). FD-related complications impair physical function and quality of life (QOL), yet Japanese data are lacking. We conducted a nationwide survey to characterize...