A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia

BACKGROUND: Familial Hypocalciuric Hypercalcemia (FHH) is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing Receptor (CaSR) gene resulting in altered calcium metabolism. OBJECTIVE: We report a case of unusually severe neonatal FHH due to a novel CaSR ge...

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Hlavní autoři: Tonyushkina, Ksenia N, O’Connor, Stephen, Dunbar, Nancy S
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3465174/
https://ncbi.nlm.nih.gov/pubmed/22620673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1687-9856-2012-13
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