Titre:
  • Early-onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data.
Auteur:Chomette, Laura; Migeotte, Isabelle; Dewachter, Céline; Vachiery, Jean-Luc; Smits, Guillaume; Bondue, Antoine
Informations sur la publication:Pulmonary circulation, 12, 2, page (e12052)
Statut de publication:Publié, 2022-04
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:blood cells
genetics
hypoxia inducible factor
pulmonary circulation
Langue:Anglais
Identificateurs:urn:issn:2045-8932
info:doi/10.1002/pul2.12052
info:pii/PUL212052
info:scp/85132911772
info:pmid/35734542
PMC9190294