Atıf İçin Kopyala
Tayfur A. C., KARADUMAN T., Turkmen M. O., ŞAHİN D., Yilmaz A. C., Buyukkaragoz B., ...Daha Fazla
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.4, ss.350-356, 2018 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
10
Sayı:
4
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Basım Tarihi:
2018
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Doi Numarası:
10.4274/jcrpe.0097
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Dergi Adı:
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
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Sayfa Sayıları:
ss.350-356
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Anahtar Kelimeler:
AVPR2, congenital nephrogenic diabetes insipidus, mutation, RECEPTOR GENE, EXPRESSION, DIAGNOSIS, FAMILIES, CLONING, WATER
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Hacettepe Üniversitesi Adresli:
Evet
Özet
Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.