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5. The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of Kwon EJ; Kim MS; Noh ES; Kim CW; Jang J; Choi JH; Cho SY; Jin DK Ann Clin Lab Sci; 2022 May; 52(3):494-498. PubMed ID: 35777808 [TBL] [Abstract][Full Text] [Related]
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13. A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene. Miyata I; Yoshikawa H; Kurokawa N; Kanno K; Hayashi Y; Eto Y Clin Pediatr Endocrinol; 2008; 17(1):17-22. PubMed ID: 24790357 [TBL] [Abstract][Full Text] [Related]
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15. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. Kinoshita Y; Hori M; Taguchi M; Watanabe S; Fukumoto S J Clin Endocrinol Metab; 2014 Feb; 99(2):E363-8. PubMed ID: 24297799 [TBL] [Abstract][Full Text] [Related]
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19. Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. Kim MY; Tan AH; Ki CS; Lee JI; Jang HW; Shin HW; Kim SW; Min YK; Lee MS; Lee MK; Kim KW; Chung JH J Korean Med Sci; 2010 Feb; 25(2):317-20. PubMed ID: 20119591 [TBL] [Abstract][Full Text] [Related]
20. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. Hirai H; Nakajima S; Miyauchi A; Nishimura K; Shimizu N; Shima M; Michigami T; Ozono K; Okada S J Hum Genet; 2001; 46(1):41-4. PubMed ID: 11289719 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]