Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200673.pdf
Reference23 articles.
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2. Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B (2005) An FGF-23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14:385–390
3. Berndt TJ, Schiavi S, Kumar R (2005) Phosphatonins and the regulation of phosphorus homeostasis. Am J Physiol Renal Physiol 289:F1170–1182
4. Burkes EJ Jr, Lyles KW, Dolan EA, Giammara B, Hanker J (1991) Dental lesions in tumoral calcinosis. J Oral Pathol Med 20:222–227
5. Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E (2005) A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification. Hum Genet 118:261–266
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