Abdelrazek IM, Holling T, Harms FL, Alawi M, Omar T, Abdalla E, Kutsche K. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature. European Journal of Medical Genetics. 2023 Mar;66(3):104715. doi: 10.1016/j.ejmg.2023.104715.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature