Associated Papers
Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.
Chen Y et al.
Orphanet Journal of Rare Diseases, 2025
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2021
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Li X et al.
Acta Oto-laryngologica, 2019
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
Chen Y et al.
Molecular Genetics and Genomics : Mgg, 2018
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