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Article

Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.

Chinese medical journal - 1 Jan 2014

Shen Yunfeng, Lai Xiaoyang, Xiao Xinlan, Li Jing, Yu Rong, Gao Hui, Zhang Meiying

Abstract excerpt

BACKGROUND: As an X-linked recessive way, arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease - congenital nephrogenic diabetes insipidus (CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. METHODS: The clinical features of the proband and his family members were recorded. The laboratory tests and...

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Source

Identifiers

PMID: 24622440

Genes

AVPR2

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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