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Article

Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2016

Cho Sun Young, Law Chun Yiu, Ng Kwok Leung, Lam Ching Wan

Abstract excerpt

BACKGROUND: The diagnosis of cranial and nephrogenic diabetes insipidus (DI) can be clinically challenging. The application of molecular genetic analysis can help in resolving diagnostic difficulties. CASE: A 3 month-old boy presented with recurrent polyuria was admitted to Intensive Care Unit and was treated as DI. The patient also had a strong family history of polyuria affecting his maternal uncles. Molecular...

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Topics

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Share to Diabetes Insipidus, Nephrogenic
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Genetic Diseases, X-Linked

Share to Genetic Linkage

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Share to Polymerase Chain Reaction

Share to Receptors, Vasopressin

Source

Identifiers

PMID: 26828532
DOI: 10.1016/j.cca.2016.01.032

Genes

AQP2
AVPR2
ARHGAP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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