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Article

Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.

Pediatrics - 1 Mar 1999

Wildin R S, Cogdell D E

Abstract excerpt

OBJECTIVE: To ascertain the clinical scenarios in which genetic testing for congenital nephrogenic diabetes insipidus (NDI) by direct detection of mutations might prove valuable, and to assess the use of automated sequencing for testing. METHODS: We reviewed NDI cases referred to our research laboratory for enrollment in our study of mutations in the AVPR2 gene that is disrupted in the X-linked form of the...

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Share to Child, Preschool
Share to Diabetes Insipidus, Nephrogenic
Share to DNA Mutational Analysis

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

Share to Genetic Carrier Screening

Share to Genetic Linkage

Share to Heterozygote

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Source

Identifiers

PMID: 10049968
DOI: 10.1542/peds.103.3.632

Genes

AVPR2

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.PMID 10049968Read ↗

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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.Semantic proximity Read ↗

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.Semantic proximity Read ↗

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

[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].Semantic proximity Read ↗

Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.Semantic proximity Read ↗

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.Semantic proximity Read ↗

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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.Semantic proximity Read ↗

Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.Semantic proximity Read ↗

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).Semantic proximity Read ↗

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