@article {128,
	title = {Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).},
	journal = {Oral Surg Oral Med Oral Pathol Oral Radiol},
	volume = {120},
	year = {2015},
	month = {2015 Dec},
	pages = {e235-9},
	abstract = {<p>Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM $\#$211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.(1) In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys. </p>},
	keywords = {Adolescent, Calcinosis, Dentin Dysplasia, Humans, Hyperostosis, Cortical, Congenital, Hyperphosphatemia, Male, Mutation, Missense, N-Acetylgalactosaminyltransferases, Pedigree, Phenotype, Radiography, Panoramic, Tooth Root},
	issn = {2212-4411},
	doi = {10.1016/j.oooo.2015.05.006},
	author = {Vieira, Alexandre R and Lee, Moses and Vairo, Filippo and Loguercio Leite, Julio Cesar and Munerato, Maria Cristina and Visioli, Fernanda and D{\textquoteright}{\'A}vila, St{\'e}phanie Rodrigues and Wang, Shih-Kai and Choi, Murim and Simmer, James P and Hu, Jan C-C}
}
