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Published January 1, 2015 | Version v1
Journal article Open

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

Creators

  • 1. Antalya Educ & Res Hosp, Dept Pediat Endocrinol, Antalya, Turkey
  • 2. Hacettepe Univ, Dept Biol, Fac Sci, Ankara, Turkey

Description

Background Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.

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