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

Autor: van Walree ES, Dombrowsky G, Jansen IE, Umićević Mirkov M, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, Hurles ME, Dittrich S, Berger F, Audain Martinez E, Christoffels VM, Hitz MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 965.
DOI: 10.1016/j.gim.2022.01.018
Databáze: MEDLINE