Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

@inproceedings{Taki2015FamilialHH,
  title={Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor},
  author={Katsumi Taki and Takahiko Kogai and Junko Sakumoto and Takashi Namatame and Akira Hishinuma},
  booktitle={Endocrinology, diabetes & metabolism case reports},
  year={2015}
}
UNLABELLED A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation in CASR, S591C, which is primarily reported to be responsible for NHPT. A 54-year-old female was referred for investigation of asymptomatic hypercalcemia that was initially found in the… CONTINUE READING
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