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

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Atıf İçin Kopyala

Döneray H., Usui T., Kaya A., Dönmez A. S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.7, sa.2, ss.140-143, 2015 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 7 Sayı: 2
• Basım Tarihi: 2015
• Doi Numarası: 10.4274/jcrpe.1874
• Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.140-143
• Atatürk Üniversitesi Adresli: Evet

Özet

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.