Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1

Am J Med Genet A. 2020 Oct;182(10):2454-2460. doi: 10.1002/ajmg.a.61779. Epub 2020 Aug 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Allergens
  • Arteriovenous Malformations / diagnosis
  • Arteriovenous Malformations / genetics*
  • Arteriovenous Malformations / pathology
  • Capillaries / abnormalities*
  • Capillaries / pathology
  • Chylothorax / diagnosis
  • Chylothorax / genetics*
  • Chylothorax / pathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Plant Proteins
  • Pleural Effusion / diagnosis
  • Pleural Effusion / genetics*
  • Pleural Effusion / pathology
  • Port-Wine Stain / diagnosis
  • Port-Wine Stain / genetics*
  • Port-Wine Stain / pathology
  • Prenatal Diagnosis / methods
  • p120 GTPase Activating Protein / genetics*

Substances

  • Allergens
  • PHLPII protein, Phleum pratense
  • Plant Proteins
  • RASA1 protein, human
  • p120 GTPase Activating Protein

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation