Titre:
  • Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.
Auteur:Chomette, Laura; Hupkens, Emeline; Romitti, Mirian; Dewachter, Laurence; Vachiery, Jean-Luc; Bailly, S; Costagliola, Sabine; Smits, Guillaume; Tillet, E; Bondue, Antoine
Informations sur la publication:American journal of medical genetics. Part A
Statut de publication:Publié, 2023-05-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:BMP9
GDF2
hereditary hemorrhagic telangiectasia
pulmonary arterial hypertension
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1552-4825
info:doi/10.1002/ajmg.a.63236
info:scp/85161262972
info:pmid/37249087