Biallelic EIF2AK4 variants

Variants in the gene encoding bone morphogenetic protein receptor type II (BMPR2) are the most common genetic cause of pulmonary arterial hypertension (PAH), whereas biallelic variants in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/ pulmonary capillary haemangiomatosis (PVOD/PCH).

8p vimaine2711 26-03-2021 10 2   Download