The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset. PMID: 26316437 [PubMed - in process]

http://www.ncbi.nlm.nih.gov/pubmed/26316437?dopt=Abstract

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research