title: Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2?
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Stalmans
authors.forename: Ingele
authors.initials: I
authors.lastname: Casteels
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003937:Diagnosis, Differential; D005145:Face; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D019339:Port-Wine Stain / Q000473:pathology*; D018633:Pulmonary Atresia / Q000473:pathology*; D012171:Retinal Vessels / Q000002:abnormalities*; D013577:Syndrome