A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia
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Springer Science and Business Media LLC
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http://link.springer.com/content/pdf/10.1186/1687-9856-2012-13.pdf
Reference19 articles.
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2. Pidasheva S, D’Souza-Li L, Canaff L, Cole DE, Hendy GN: CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat. 2004, 24: 107-111. 10.1002/humu.20067.
3. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993, 75: 1297-1303. 10.1016/0092-8674(93)90617-Y.
4. Brown EM: Editorial: mutant extracellular calcium-sensing receptors and severity of disease. J Clin Endocrinol Metab. 2005, 90: 1246-1248.
5. Obermannova B, Banghova K, Sumnik Z, Dvorakova HM, Betka J, Fencl F, Kolouskova S, Cinek O, Lebl J: Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr. 2009, 168: 569-573. 10.1007/s00431-008-0794-y.
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