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Article

Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.

The Journal of clinical endocrinology and metabolism - 1 Apr 2020

García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Vela Amaia, Rica Itxaso, Gaztambide Sonia, Martínez Rosa, Martinez de LaPiscina Idoia, Urrutia Inés, Aguayo Anibal, Velasco Olaia, Castaño Luis

Abstract excerpt

CONTEXT: Familial neurohypophyseal diabetes insipidus is a rare disease produced by a deficiency in the secretion of antidiuretic hormone and is caused by mutations in the arginine vasopressin gene. OBJECTIVE: Clinical, biochemical, and genetic characterization of a group of patients clinically diagnosed with familial neurohypophyseal diabetes insipidus, 1 of the largest cohorts of patients with protein...

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PMID: 32052034
DOI: 10.1210/clinem/dgaa069

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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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Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.PMID 32052034Read ↗

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