Naoko Nishimura-Kinoshita Yasuhisa Ohata Hiromi Sawai Masako Izawa Shinji Takeyari Takuo Kubota Yosuke Omae Keiichi Ozono Katsushi Tokunaga Takashi Hamajima
10.1297/cpe.2022-0071
Clin Pediatr Endocrinol
2023;32(3):161-167.
n-acetylgalactosaminyltransferase 3 (galnt3) hyperostosis–hyperphosphatemia syndrome hyperphosphatemic familial tumoral calcinosis tumoral calcinosis uniparental disomy
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/37362161/
Case Reports
PMC10288290
37362161
A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant
2023