Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Fiche publication
Date publication
octobre 2019
Journal
Archives of disease in childhood. Fetal and neonatal edition
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GAILLARD Dominique
Tous les auteurs :
Jourdan-Voyen L, Touraine R, Masutti JP, Busa T, Vincent-Delorme C, Dreyfus L, Molin A, Savey B, Mounzer A, Assaf Z, Atallah V, da Cruz V, Gaillard D, Leroy-Terquem E, Mouton JB, Ghoumid J, Picaud JC, Dijoud F, Bouquillon S, Baumann C, Lambert L
Lien Pubmed
Résumé
Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed.
Mots clés
alveolar capillary dysplasia, genetics, newborns, pulmonary hypertension
Référence
Arch. Dis. Child. Fetal Neonatal Ed.. 2019 Oct 22;: