Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

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 h...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839436/
https://www.ncbi.nlm.nih.gov/pubmed/33247988
http://dx.doi.org/10.1002/ajmg.a.61988

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839436/
https://www.ncbi.nlm.nih.gov/pubmed/33247988
http://dx.doi.org/10.1002/ajmg.a.61988

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