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
From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.
Batchelor-Regan H et al.
Frontiers in Genetics, 2021
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y et al.
American Journal of Medical Genetics. Part A, 2014
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Xin B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Select a paper to view details