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

Ilhan, MAHMUT; Tiryakioglu, N.; KARAMAN, Özcan; Coskunpinar, E.; YILDIZ, R.; TURGUT, Seda; Tiryakioglu, D.; TOPRAK, HÜSEYİN; TASAN, ERTUĞRUL

doi:10.1007/s40618-015-0357-9

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

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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)

Publication Type: Article / Article
Volume: 39 Issue: 3
Publication Date: 2016
Doi Number: 10.1007/s40618-015-0357-9
Journal Name: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.285-290
Bezmialem Vakıf University Affiliated: Yes

Abstract

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.