Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension

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 sep...

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Veröffentlicht in:BMC Med Genet
Hauptverfasser: Abou Hassan, Ossama K., Haidar, Wiam, Arabi, Mariam, Skouri, Hadi, Bitar, Fadi, Nemer, Georges, Akl, Imad Bou
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849225/
https://ncbi.nlm.nih.gov/pubmed/31711431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0915-7
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