… The diagnosis of this syndrome is established by clinical manifestations and is confirmed
by molecular genetic testing such as whole-exome sequencing (WES) and gene sequencing. …

… Single whole-exome sequencing in patient 1 and Sanger … TMCO1 defect syndrome … -1
(CFSMR1; OMIM#213980 ; alternative name: cerebro-facio-thoracic dysplasia) is an ultrarare …

… that it is synonymous to the TMCO1 defect syndrome [6]. The … TMCO1 defect syndrome in
a male patient, with similar features to the Amish patients and used whole-exome sequencing …

… Whole-exome sequencing identified a patient with TMCO1 defect syndrome and
expands the phenotic spectrum. Clinical Genetics, 84, 394-395. doi: 10.1111/cge.12088 …

… multiple TMCO1 variants in patients with cerebro-facio-thoracic dysplasia (CFTD) and TMCO1
… of TMCO1 genetic variation on human disease and identify the functional properties of its …

… : Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic
variant… Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands …

… recognized to cause cerebrofaciothoracic dysplasia (CFTD). … since the discovery of TMCO1
deficiency in disease, including … , are well known in their link to innate and acquired immunity. …

… B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum (ER),
where it facilitates the translation of nascent polypeptides within the ribosome-bound TMCO1 …

… has been a logarithmic explosion in neurogenetic “disease-associated genes” molecular
etiology and … We propose 86 candidate disease-trait-associated genes for an NDD phenotype. …

… TMCO1-defect syndrome shares multiple features with human cerebro-facio-thoracic (CFT)
dysplasia, … For the first time, our study established a causative link among dysregulation of Ca …