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Article

The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review.

Pediatric neurology - 1 Oct 2026

Bonaventura Eleonora, Marelli Daria, Carugo Umberto, Politano Davide, Spaccini Luigina, Parazzini Cecilia, Orcesi Simona, Tonduti Davide

Abstract excerpt

BACKGROUND: To characterize the phenotypic spectrum of COL4A1- and COL4A2-related disorders across the lifespan, providing a descriptive evidence base to complement recently published consensus recommendations. METHOD: Using the PubMed database and applying predefined inclusion and exclusion criteria, we identified and included 99 articles in this study. For each patient reported in these 99 studies, the...

Read the complete abstract on PubMed

Topics

Humans
Brain
Collagen Type IV
Leukoencephalopathies
Phenotype
Porencephaly

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

Source

Identifiers

PMID: 42508350
DOI: 10.1016/j.pediatrneurol.2026.06.025

Genes

COL4A1
COL4A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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