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  • Title: Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
    Author: Kim MY, Tan AH, Ki CS, Lee JI, Jang HW, Shin HW, Kim SW, Min YK, Lee MS, Lee MK, Kim KW, Chung JH.
    Journal: J Korean Med Sci; 2010 Feb; 25(2):317-20. PubMed ID: 20119591.
    Abstract:
    Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.
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