A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.
HEY2 中的一种新的杂合致病变异导致了非综合征型法洛四联症的家族性表现
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01880-3
Bergès Camille, Laffargue Fanny, Dauphin Claire, Postma Alex-Vincent, Thambo Jean-Benoit, Rooryck Caroline
