Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.

Mahjoubi, F

Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. [electronic resource] - Journal of endocrinological investigation Aug 2020 - 1125-1130 p. digital

Publication Type: Case Reports; Journal Article

1720-8386

10.1007/s40618-020-01203-x doi


Adult
Calcinosis--etiology
Exons
Female
Fibroblast Growth Factor-23
Humans
Hyperostosis, Cortical, Congenital--etiology
Hyperphosphatemia--etiology
Male
Mutation
N-Acetylgalactosaminyltransferases--genetics
Pedigree
Prognosis
Polypeptide N-acetylgalactosaminyltransferase