Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2?

Am J Med Genet A. 2005 Jan 30;132A(3):340-1. doi: 10.1002/ajmg.a.30458.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • Diagnosis, Differential
  • Face
  • Heart Defects, Congenital / pathology*
  • Humans
  • Port-Wine Stain / pathology*
  • Pulmonary Atresia / pathology*
  • Retinal Vessels / abnormalities*
  • Syndrome