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Article

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

Pediatric radiology - 1 Mar 2021

England Elizabeth C, Cornejo Patricia, Neilson Derek E, Rao Rashmi P, Goncalves Luis F

Abstract excerpt

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were...

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Identifiers

PMID: 33057775
DOI: 10.1007/s00247-020-04847-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.PMID 33057775Read ↗

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Brain and Placental Pathology in Fetal COL4A1 Related Disease.Semantic proximity Read ↗

Role of COL4A1 in Basement-Membrane Integrity and Cerebral Small-Vessel Disease. The COL4A1 Stroke SyndromeSemantic proximity Read ↗

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

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.Semantic proximity Read ↗

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