Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants

Am J Respir Cell Mol Biol. 2024 Feb;70(2):143-145. doi: 10.1165/rcmb.2023-0166LE.

Authors

Kelly Vetel¹, Mélanie Eyries², Laurent Savale¹, Caroline Kanengiesser³, Raphael Borie³, Marc Humbert¹, David Montani¹

Affiliations

¹ Université Paris-Saclay, AP-HP, INSERM UMR_S 999 Le Kremlin Bicêtre, France.
² Sorbonne Université, AP-HP Paris, France.
³ Université Paris Cité, AP-HP, INSERM UMR-S 1152 PHERE Paris, France.

PMID: 38299797
DOI: 10.1165/rcmb.2023-0166LE

No abstract available

Publication types

Letter

MeSH terms

Humans
Hypertension, Pulmonary*
Protein Serine-Threonine Kinases
Pulmonary Fibrosis* / genetics
Pulmonary Veno-Occlusive Disease* / genetics
Pulmonary Veno-Occlusive Disease* / pathology

Substances

Protein Serine-Threonine Kinases
EIF2AK4 protein, human