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Article

COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum.

American journal of medical genetics. Part A - 1 Nov 2024

Kukulka Natalie A, Zarei Sanam, Glass Joshua, Bouska Cecilia, Schroder Jason, Sen Kuntal

Abstract excerpt

Pseudo-TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders that may clinically and radiologically resemble congenital TORCH infections. These mimickers present with overlapping features manifested as intracranial and systemic abnormalities. Collagen type IV alpha 1 chain (COL4A1)-related diseases, characterized by autosomal dominant inheritance, exhibit a diverse phenotypic spectrum...

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Source

Identifiers

PMID: 38942733
DOI: 10.1002/ajmg.a.63804

Genes

COL4A1
PTS

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.

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