Publication: A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus
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Date
2016-03-01
Authors
Ilhan, MAHMUT MUZAFFER
Tiryakioglu, N. O.
KARAMAN, O.
Coskunpinar, E.
YILDIZ, R. S.
TURGUT, SEDA
Tiryakioglu, D.
TOPRAK, HÜSEYİN
TASAN, ERTUĞRUL
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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.
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Ilhan M. M. , Tiryakioglu N. O. , KARAMAN O., Coskunpinar E., YILDIZ R. S. , TURGUT S., Tiryakioglu D., TOPRAK H., TASAN E., -A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus-, JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.39, ss.285-290, 2016