Abu-El-Haija, Aya

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. [electronic resource] - American journal of medical genetics. Part A 12 2018 - 2877-2881 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.40641 doi


Abnormalities, Multiple--diagnosis
Autopsy
Biomarkers
Biopsy
Comparative Genomic Hybridization
Cytogenetic Analysis
Echocardiography
Female
Forkhead Transcription Factors--genetics
Genetic Association Studies
Humans
Infant
Male
Mutation
Persistent Fetal Circulation Syndrome--diagnosis
Phenotype
Polymorphism, Single Nucleotide
Pulmonary Alveoli--abnormalities
Pulmonary Veins--abnormalities