Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation.

Annals of laboratory medicine - 1 May 2024

Kim Boram, Ahn Yo Han, Park Jae Hyeon, Lim Han Sol, Chae Seung Won, Lee Jee-Soo, Kang Hee Gyung, Kim Man Jin, Seong Moon-Woo

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diabetes Insipidus, Nephrogenic
Share to Diabetes Mellitus
Share to Mutagenesis, Insertional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 38145893
DOI: 10.3343/alm.2023.0361
PMCID: PMC10813831

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation.PMID 38145893Read ↗

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2Semantic proximity Read ↗

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

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.Semantic proximity Read ↗

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

Genetic basis of nephrogenic diabetes insipidus.Semantic proximity Read ↗

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

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Semantic proximity Read ↗

[Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].Semantic proximity Read ↗

Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.Semantic proximity Read ↗

[Diagnosis and follow-up of 2 cases of pediatric nephrogenic syndrome of inappropriate antidiuresis resulting from activating mutation in AVPR2 and literature review].Semantic proximity Read ↗

A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2Semantic proximity Read ↗

[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.