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Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus.

Endocrine - 1 Dec 2021

Türkmen Merve Özcan, Karaduman Tugce, Tuncdemir Beril Erdem, Ünal Mehmet Altay, Mergen Hatice

Abstract excerpt

PURPOSE: Familial neurohypophyseal diabetes insipidus (FNDI), a rare disorder, which is clinically characterized by polyuria and polydipsia, results from mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The aim of this study was to perform functional analyses of three different mutations (p.G45C, 207_209delGGC, and p.G88V) defined in the AVP-NPII gene of patients diagnosed with FNDI, which...

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Identifiers

PMID: 34232487
DOI: 10.1007/s12020-021-02803-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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