Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
| Autor: | Rafaelsen, Silje1 Silje.Rafaelsen@k2.uib.no, Johansson, Stefan1,2 Stefan.Johansson@k2.uib.no, Ræder, Helge1,3 Helge.Rader@pedi.uib.no, Bjerknes, Robert1 Robert.Bjerknes@k2.uib.no |
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| Zdroj: | BMC Genetics. 2014, Vol. 15 Issue 1, p1-21. 21p. |
| Databáze: | Academic Search Ultimate |
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