Emery and Rimoin's Principles and Practice of Medical Genetics 2013
DOI: 10.1016/b978-0-12-383834-6.00089-6
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Parathyroid Disorders

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“…Though, intriguingly, CaSR sites can be found throughout the body including the brain, intestines, bone marrow, pancreas, and eyes. Such a finding lends credence to an understanding of extracellular calcium as central to parenchymal function across the body [ 6 - 8 ]. Intriguingly, genetic defects in the CaSRs are implicated in a range of calcemic disorders and may be investigated upon presentation with hypo- or hypercalcemia after the diagnosis of secondary malignancy, primary parathyroid dysfunction, or vitamin D deficiency has been ruled out [ 7 , 8 ].…”
Section: Abundance and Regulatory Functionmentioning
confidence: 83%
“…Though, intriguingly, CaSR sites can be found throughout the body including the brain, intestines, bone marrow, pancreas, and eyes. Such a finding lends credence to an understanding of extracellular calcium as central to parenchymal function across the body [ 6 - 8 ]. Intriguingly, genetic defects in the CaSRs are implicated in a range of calcemic disorders and may be investigated upon presentation with hypo- or hypercalcemia after the diagnosis of secondary malignancy, primary parathyroid dysfunction, or vitamin D deficiency has been ruled out [ 7 , 8 ].…”
Section: Abundance and Regulatory Functionmentioning
confidence: 83%