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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Ilse LuyckxIsaac Scott WaltonNele BoeckxKristof Van SchilChingyiu PangMania De PraeterHelen LordChristopher Mark WatsonDavid T BonthronLut Van LaerAndrew O M WilkieBart L Loeys
Published in: Journal of medical genetics (2024)
to include craniosynostosis.
Keyphrases
  • epithelial mesenchymal transition
  • copy number
  • transforming growth factor
  • cord blood
  • gene expression
  • genome wide