A case of familial tumoral calcinosis/hyperostosis–hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features
Titel:
A case of familial tumoral calcinosis/hyperostosis–hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features
Auteur:
Dumitrescu, C. E. Kelly, M. H. Khosravi, A. Hart, T. C. Brahim, J. White, K. E. Farrow, E. G. Nathan, M. H. Murphey, M. D. Collins, M. T.