Abstract:ObjectivePrimary hypomagnesemia with secondary hypocalcemia (HSH) is caused by loss-of-function mutations in the TRPM6 gene encoding the epithelial magnesium channel. It is characterized by hypomagnesemia and secondary hypocalcemia associated with neurological symptoms. Here, we aimed to investigate the genetic defects of the TRPM6 gene found in a girl from China.MethodsThe genomic DNA of the proband and the parents was extracted for whole-exome sequencing. Sanger sequencing was further performed to validate t… Show more
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