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Title
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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication
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Author
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Abstract
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| 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 COL4A2 duplication. Although it is not clear yet whether this genetic factor fully explains the clinical phenotype, it may have contributed at least as a risk factor for cerebral hemorrhage. Screening for intragenic COL4A1 and COL4A2 duplications as part of collagen IV diagnostics should be considered as part of the fetal and neonatal work-up for unexplained cerebral hemorrhages and to collect more evidence of the pathogenicity of this genetic mechanism. |
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Language
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English
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Source (journal)
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American journal of medical genetics : part A. - Bognor Regis, 2003, currens
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Publication
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Hoboken
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Wiley
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2021
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ISSN
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1552-4825
[print]
1552-4833
[online]
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DOI
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10.1002/AJMG.A.61988
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Volume/pages
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185
:2
(2021)
, p. 571-574
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ISI
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000593111600001
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Pubmed ID
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33247988
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Full text (Publisher's DOI)
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Full text (open access)
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