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Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850.
J Bone Miner Res. 2013.
PMID: 23325605
Free article.
Clinical Trial.
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Rafaelsen S, Johansson S, Ræder H, Bjerknes R.
Rafaelsen S, et al.
Eur J Endocrinol. 2016 Feb;174(2):125-36. doi: 10.1530/EJE-15-0515. Epub 2015 Nov 5.
Eur J Endocrinol. 2016.
PMID: 26543054
Free PMC article.
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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.
Rafaelsen S, Johansson S, Ræder H, Bjerknes R.
Rafaelsen S, et al.
BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3.
BMC Genet. 2014.
PMID: 25249269
Free PMC article.
Review.
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