TCOF1

Publications

Beygo J et al. First report of a single exon deletion in TCOF1 causing Treacher Collins syndrome. Mol Syndromol. 2012;2:53–9. PMID: 22712005.

Bowman M et al. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. Eur J Hum Genet. 2012;20:769–77. PMID: 22317976.

Dauwerse JG et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43(1):20-2. PMID: 21131976.

Sanchez E et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020;22:547–56. PMID: 31649276.

Teber et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12(11):879-90. PMID: 15340364.

Vincent M et al. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. Eur J Hum Genet. 2014;22:52–6. PMID: 23695276.

Vincent M et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016;18:49–56. PMID: 25790162.