Associated Papers
Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.
Antal G et al.
International Journal of Molecular Sciences, 2024
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2021
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
Chen Y et al.
Molecular Genetics and Genomics : Mgg, 2018
A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
Wang Y et al.
Molecular Genetics and Genomics : Mgg, 2014
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Bowman M et al.
European Journal of Human Genetics : Ejhg, 2012
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
Masotti C et al.
Bmc Medical Genetics, 2009
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