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Article

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

American journal of medical genetics. Part A - 1 Feb 2021

Koene Saskia, Peeters-Scholte Cacha M P C D, Knijnenburg Jeroen, de Vries Linda S, van Scheltema Phebe N Adama, Meuwissen Marije E, Steggerda Sylke J, Santen Gijs W E

Abstract excerpt

Intracerebral hemorrhage is rare in term born neonates. Besides several non-genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date. We report a neonate with intracerebral hemorrhage and a de novo intragenic...

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Share to Cerebral Hemorrhage
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

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Share to Prenatal Diagnosis

Source

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Identifiers

PMID: 33247988
DOI: 10.1002/ajmg.a.61988
PMCID: PMC7839436

Provenance

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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