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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Nov 2016

Reutter Heiko, Hilger Alina C, Hildebrandt Friedhelm, Ludwig Michael

Abstract excerpt

The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL...

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

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Source

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Identifiers

PMID: 26857713
DOI: 10.1007/s00467-016-3335-3
PMCID: PMC5207487

Genes

FGF8
FOXF1
HOXD13
LPP
TRAP1
ZIC3

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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Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.PMID 26857713Read ↗

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

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

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

Familial occurrence of the VATER/VACTERL association.Semantic proximity Read ↗

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

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

SALL4 deletion and renal and cardiac defects associated with VACTERL associationSemantic proximity Read ↗

Considering the Embryopathogenesis of VACTERL AssociationSemantic proximity Read ↗

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.Semantic proximity Read ↗

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.Semantic proximity Read ↗

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Semantic proximity Read ↗

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.Semantic proximity Read ↗

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