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  • Title: A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
    Author: Apa H, Kayserili E, Agin H, Hizarcioglu M, Gulez P, Berdeli A.
    Journal: Indian J Pediatr; 2008 Jun; 75(6):632-4. PubMed ID: 18759094.
    Abstract:
    An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
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