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Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia.

Ronly H-E CohnMatthew HicksAtilano LacsonAnne Hicks
Published in: Clinical case reports (2020)
Unilateral pulmonary vein atresia (UPVA) is a rare congenital vascular malformation with obliteration of the pulmonary vein. We present a case series of three siblings with variable presentation of UPVA. We suggest a dominant genetic cause based on different paternity. Identifying genetic etiology would contribute to early diagnosis and screening.
Keyphrases
  • genome wide
  • copy number
  • intellectual disability
  • dna methylation
  • gene expression