Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

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

https://www.ncbi.nlm.nih.gov/pubmed/31641027

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;: