| Literature DB >> 18759094 |
Hursit Apa1, Ertan Kayserili, Hasan Agin, Murat Hizarcioglu, Pamir Gulez, Afig Berdeli.
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.Entities:
Mesh：
Substances：
Year: 2008 PMID： 18759094 DOI： 10.1007/s12098-008-0121-7
Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967