Identification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis-Reference-Cited by-同舟云学术

Identification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis

Published:2022-03-06 Issue:2 Volume:200 Page:217-219
ISSN:0341-2040
Container-title:Lung
language:en
Short-container-title:Lung

Author:

Kimmig Lucas M.,Stutz Matthew R.,Husain Aliya N.,Bag Remzi^ORCID

Funder

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Pulmonary and Respiratory Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00408-022-00517-2.pdf

Reference10 articles.

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2. O’Keefe MC, Post MD (2015) Pulmonary capillary hemangiomatosis: a rare cause of pulmonary hypertension. Arch Pathol Lab Med 139:274–277

3. Morrell NW, Aldred MA, Chung WK et al (2019) Genetics and genomics of pulmonary arterial hypertension. Eur Respir J 53:1801899

4. Abou Hassan OK, Haidar W, Arabi M et al (2019) Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension. BMC Med Genet 20:176

5. Hadinnapola C, Bleda M, Haimel M et al (2017) Phenotypic characterization of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension. Circulation 136:2022–2033

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