Article
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.
BMC medical genetics - 11 Nov 2019
Abou Hassan Ossama K, Haidar Wiam, Arabi Mariam, Skouri Hadi, Bitar Fadi, Nemer Georges, Akl Imad Bou
Abstract excerpt
BACKGROUND: Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools and is characterized by the proliferation of capillaries into the alveolar septae. Mutations in the gene encoding the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) have...
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