Abstract
Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
MeSH terms
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Calcium / blood
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DNA Mutational Analysis
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Humans
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Hypercalcemia / blood
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Hypercalcemia / genetics*
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Infant, Newborn
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Infant, Newborn, Diseases / blood
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Infant, Newborn, Diseases / genetics*
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Male
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Polymorphism, Genetic*
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Receptors, Calcium-Sensing / genetics*
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Reference Values
Substances
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CASR protein, human
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Receptors, Calcium-Sensing
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Calcium