Clinical presentation of a patient with a novel homozygous mutation in the TRPM6 gene.

We present clinical follow up of a pediatric HSH case due to a novel mutation in the TRPM6 gene. Furthermore, we aimed to highlight the requirement of molecular genetic analysis in the inbred or familial cases with hypomagnesemia. PMID: 26759217 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/26759217?dopt=Abstract

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research