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
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Morgan A et al.
Genes, 2020
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E et al.
Frontiers in Genetics, 2020
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
Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.
Fan X et al.
Science Progress, 0
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