title: The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
abstract: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. 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.
authors: Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey Phone: +90 535 944 43 07 E-mail: hdoneray@hotmail.com.
authors: Hakan
authors: H
authors: Döneray
authors: Takeshi
authors: T
authors: Usui
authors: Avni
authors: A
authors: Kaya
authors: Ayşe Sena
authors: AS
authors: Dönmez
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D003241:Consanguinity; D050990:GATA3 Transcription Factor / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications* / Q000235:genetics; D007223:Infant; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D013577:Syndrome; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human