A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification-Reference-Cited by-同舟云学术

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Published:2005-09-07 Issue:2 Volume:118 Page:261-266
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Chefetz Ilana,Heller Raoul,Galli-Tsinopoulou Assimina,Richard Gabriele,Wollnik Bernd,Indelman Margarita,Koerber Friederike,Topaz Orit,Bergman Reuven,Sprecher Eli,Schoenau Eckhard

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-0026-8.pdf

Reference21 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. Frishberg Y, Topaz O, Bergman R et al (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med 83:33–38

4. Giard A (1898) Sur la calcification tibernale. CR Soc Biol 10:1015–1021

5. Ichikawa S, Lyles KW, Econs MJ (2005) A novel GALNT3 mutation in a pseudo-autosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 90:2420–2423

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