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Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome

7 Jul 2016

Abstract excerpt

BACKGROUND: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. METHODS: Medical records of eight patients from...

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PMID: 27387476
DOI: 10.1093/ndt/gfw271

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