Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

PURPOSE: In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728. METHODS: Trio genome sequencing was carried out in an index patient with critical c...

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Detalles Bibliográficos
Autores principales: van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Martinez, Enrique Audain, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804301/
https://www.ncbi.nlm.nih.gov/pubmed/32820247
http://dx.doi.org/10.1038/s41436-020-00939-4

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