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., ...Daha Fazla

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.39, sa.3, ss.285-290, 2016 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s40618-015-0357-9
  • Dergi Adı: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.285-290
  • Bezmiâlem Vakıf Üniversitesi Adresli: Evet

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.