A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease.
Chun ZhangQiang DuSha WangRui-Feng ZhangPublished in: BMC pulmonary medicine (2022)
Our results expand our understanding of the EIF2AK4 mutation spectrum in patients with PVOD, as well as highlight the clinical applicability of WES.