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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Melo Maria Edna de, Marui Suemi, Brito Vinícius Nahime de, Mancini Marcio Corrêa, Mendonca Berenice B, Knoepfelmacher Mirta

Abstract excerpt

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a...

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PMID: 19169480
DOI: 10.1590/s0004-27302008000800011

Genes

AVP

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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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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family.PMID 19169480Read ↗

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