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

Autor: Abdelrazek, Ibrahim M., Holling, Tess, Harms, Frederike L., Alawi, Malik, Omar, Tarek, Abdalla, Ebtesam, Kutsche, Kerstin
Zdroj: In European Journal of Medical Genetics March 2023 66(3)
Databáze: ScienceDirect