Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
两名互不相关的颅缝早闭和桡尺骨缝早闭患者携带纯合SMAD6变异
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109151
Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T; Van Laer, Lut; Wilkie, Andrew O M; Loeys, Bart
