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The first Turkish case of hypoparathyroidism,deafness and renal dysplasia (HDR) syndrome
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نویسنده
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döneray h. ,usui t. ,kaya a. ,dönmez a.s.
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منبع
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journal of clinical research in pediatric endocrinology - 2015 - دوره : 7 - شماره : 2 - صفحه:140 -143
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چکیده
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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.
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کلیدواژه
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HDR syndrome; Infant; P.R367X mutation
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آدرس
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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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Authors
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