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Article

Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.

Clinical endocrinology - 1 Oct 2012

Jendle Johan, Christensen Jane H, Kvistgaard Helene, Gregersen Niels, Rittig Søren

Abstract excerpt

OBJECTIVE: Familial neurohypophyseal diabetes insipidus (FNDI) is mainly an autosomal dominant inherited disorder presenting with severe polydipsia and polyuria in early childhood. In this study, we aimed to determine the molecular genetics and clinical characteristics of a large Swedish-Norwegian family presenting with very late-onset autosomal dominant FNDI. PATIENTS: Six probands with a history of developing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22524462
DOI: 10.1111/j.1365-2265.2012.04417.x

Genes

AVP

Variants

Provenance

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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