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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Yuki TaniguchiNorifumi TakedaRyo InuzukaYoshitaka MatsubayashiSo KatoToru DoiHiroki YagiHaruo YamauchiMasahiko AndoYasushi OshimaSakae Tanaka
Published in: Journal of medical genetics (2021)
variants with these genetic risk factors should be monitored carefully for scoliosis progression.
Keyphrases
  • risk factors
  • copy number
  • genome wide
  • early onset
  • case report
  • gene expression
  • aortic aneurysm