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
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.
Hwang J et al.
Oral Diseases, 2017
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D et al.
European Journal of Human Genetics : Ejhg, 2014
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y et al.
American Journal of Medical Genetics. Part A, 2014
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.
Caglayan AO et al.
Clinical Genetics, 2013
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