Associated Papers
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.
Abdelrazek IM et al.
European Journal of Medical Genetics, 2023
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.
Michael Yates T et al.
American Journal of Medical Genetics. Part A, 2019
Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.
Tender JAF et al.
Translational Science of Rare Diseases, 2018
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D et al.
European Journal of Human Genetics : Ejhg, 2014
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