A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 513 citations · Full text

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens et al. · Genome Research · 2012 · 147 citations · Full text

Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Partha Sen, Yaping Yang, C. Navarro et al. · Human Mutation · 2013 · 114 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +15

Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression

S. E. Boggs, Mary C. Harris, David J. Hoffman et al. · The Journal of Pediatrics · 1994 · 103 citations

Pulmonary Circulation, Vascular Malformation, Pulmonary Alveolar Proteinosis +7

Late presentation of misalignment of lung vessels with alveolar capillary dysplasia

Hasan I. Abdallah, Nelly Karmazin, Lloyd A. Marks · Critical Care Medicine · 1993 · 77 citations

Pediatric Heart Disease, Vascular Malformation, Pulmonary Alveolar Proteinosis +22