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Author

K. Ozono

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Review Open access Sep 2026

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...

H. Shibata, Tomohiro Ishii, K. Ozono et al. · 0 citations
Open access Aug 2026

Creation and characterization of novel knock-in mouse models of hypophosphatasia

These knock-in mouse models recapitulate genotype-dependent dental manifestations of HPP and indicate that dental phenotypes are influenced not only by circulating TNAP levels but also by the functional effects of individual ALPL variants.

R. Okawa, Marin Ochiai, H. Kurosaka et al. · 0 citations

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