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Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.

Farzane VafaeieZahra Miri KaramAbolfazl YariHossein SafarpourTooba KazemiShokoofeh EtesamMojtaba MohammadpourEbrahim Miri-Moghaddam
Published in: Health science reports (2023)
Our report expands the spectrum of the Marfan phenotype by providing details of its clinical manifestations and disease-associated molecular changes. It also highlights the value of WES in genetic diagnosis and contributes to genetic counseling in families with MFS.
Keyphrases
  • genome wide
  • copy number
  • case report
  • smoking cessation
  • hepatitis c virus
  • aortic dissection
  • hiv infected
  • men who have sex with men
  • hiv testing
  • antiretroviral therapy