Article
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus.
Journal of endocrinological investigation - 1 Mar 2016
Ilhan M, Tiryakioglu N O, Karaman O, Coskunpinar E, Yildiz R S, Turgut S, Tiryakioglu D, Toprak H, Tasan E
Abstract excerpt
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. METHODS: Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied....
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