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[Case report of a cystic lung disease: From a rarity to the discovery of an unknown genetic variant].

L-A DeflandreT WeberM OteP Bourgeois
Published in: Revue des maladies respiratoires (2024)
After analyzing the available literature data, we raise questions about a possible link between this variant of the FAT4 gene, chronic lymphedema and our patient's cystic lung disease.
Keyphrases
  • case report
  • genome wide
  • copy number
  • small molecule
  • systematic review
  • adipose tissue
  • electronic health record
  • high throughput
  • big data
  • dna methylation
  • gene expression
  • genome wide identification