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Article

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

Pituitary - 1 Dec 2015

Turkkahraman Doga, Saglar Emel, Karaduman Tugce, Mergen Hatice

Abstract excerpt

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. OBJECTIVE: To determine clinical and molecular characteristics of patients with familial central DI from two different Turkish families. MATERIALS...

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PMID: 26134705
DOI: 10.1007/s11102-015-0668-z

Genes

AVP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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