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., ...More

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol.39, no.3, pp.285-290, 2016 (SCI-Expanded) identifier identifier identifier


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.