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Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability.

Mamiko YamadaYu YamaguchiTomoko UeharaTatsuhiko YagihashiKenjiro Kosaki
Published in: Congenital anomalies (2020)
Keyphrases
  • intellectual disability
  • case report
  • autism spectrum disorder
  • early onset
  • aortic dissection