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   The first Turkish case of hypoparathyroidism,deafness and renal dysplasia (HDR) syndrome  
   
نویسنده döneray h. ,usui t. ,kaya a. ,dönmez a.s.
منبع journal of clinical research in pediatric endocrinology - 2015 - دوره : 7 - شماره : 2 - صفحه:140 -143
چکیده    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. © journal of clinical research in pediatric endocrinology,published by galenos publishing.
کلیدواژه HDR syndrome; Infant; P.R367X mutation
آدرس atatürk university,department of pediatric endocrinology, Turkey, kyoto medical center,national hospital organization,clinical research institute, Japan, atatürk university,department of pediatric endocrinology, Turkey, atatürk university,department of pediatrics, Turkey
 
     
   
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