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

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Dec 2022

Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells C F, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E

Abstract excerpt

Pathogenic variants of collagen type IV alpha 1 and 2 (COL4A1/COL4A2) genes cause various phenotypic anomalies, including intracerebral hemorrhage and a wide spectrum of developmental anomalies. Only 20% of fetuses referred for COL4A1/COL4A2 molecular screening (fetuses with a suspected intracerebral hemorrhage) carry a pathogenic variant in these genes, raising questions regarding the causative anomaly in the...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Cerebral Hemorrhage

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

Share to Collagen Type IV

Share to Corpus Callosum

Share to Metabolic Diseases

Share to Nervous System Malformations

Share to Phenotype

Share to Pregnancy

Source

Open in PubMed Open full text

Identifiers

PMID: 35943828
DOI: 10.1002/uog.26046
PMCID: PMC10695434

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.PMID 35943828Read ↗

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.Semantic proximity Read ↗

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.Semantic proximity Read ↗

Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.Semantic proximity Read ↗

Prenatal clinical manifestations in individuals with COL4A1/2 variants.Semantic proximity Read ↗

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex DeficiencySemantic proximity Read ↗

Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysisSemantic proximity Read ↗

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C].Semantic proximity Read ↗

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.Semantic proximity Read ↗

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.Semantic proximity Read ↗

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.Semantic proximity Read ↗

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.Semantic proximity Read ↗

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