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

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

Pediatric research - 1 Apr 2024

Li Yue, Liu Peiqi, Wang Weilin, Jia Huimin, Bai Yuzuo, Yuan Zhengwei, Yang Zhonghua

Abstract excerpt

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca...

Read the complete abstract on PubMed

Topics

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

Share to Anal Canal
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Esophagus

Share to Heart Defects, Congenital

Share to Limb Deformities, Congenital

Share to Trachea

Source

Identifiers

PMID: 38135728
DOI: 10.1038/s41390-023-02928-0

Genes

IMPACT

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.PMID 38135728Read ↗

Genome-wide copy number variation study in anorectal malformations.Semantic proximity Read ↗

Phenotypic diversity of patients diagnosed with VACTERL association.Semantic proximity Read ↗

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Semantic proximity Read ↗

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesSemantic proximity Read ↗

Clinical geneticists' views of VACTERL/VATER associationSemantic proximity Read ↗

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Semantic proximity Read ↗

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.Semantic proximity Read ↗

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.Semantic proximity Read ↗

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationSemantic proximity Read ↗

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.Semantic proximity Read ↗

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.Semantic proximity Read ↗

The Role of De Novo Variants in Formation of Human Anorectal Malformations.Semantic proximity Read ↗

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