A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus


Ilhan M. M. , Tiryakioglu N. O. , KARAMAN O. , Coskunpinar E., YILDIZ R. S. , TURGUT S. , et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.39, ss.285-290, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 39 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s40618-015-0357-9
  • Dergi Adı: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • Sayfa Sayısı: ss.285-290

Özet

Purpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.