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Article

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.

Neuroendocrinology - 1 Jan 2018

Toustrup Lise Bols, Kvistgaard Helene, Palmfeldt Johan, Bjerre Charlotte Kjær, Gregersen Niels, Rittig Søren, Corydon Thomas Juhl, Christensen Jane H

Abstract excerpt

BACKGROUND/AIM: Variability in the severity and age at onset of autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) may be associated with certain types of variants in the arginine vasopressin (AVP) gene. In this study, we aimed to describe a large family with an apparent predominant female occurrence of polyuria and polydipsia and to determine the underlying cause. METHODS: The family...

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Identifiers

PMID: 28494452
DOI: 10.1159/000477246

Genes

AVP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.PMID 28494452Read ↗

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