Article
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021
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, Audain Martinez Enrique, Christoffels Vincent M, Hitz Marc-Philip, Milewicz Dianna M, Posthuma Daniëlle, Meijers-Heijboer Hanne, Postma Alex V, Mathijssen Inge B
Abstract excerpt
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 congenital heart disease (CHD); family members had either exome or Sanger sequencing. To confirm enrichment, we...
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