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 LoeysPublished in: Journal of medical genetics (2024)
to include craniosynostosis.