Associated Papers
Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.
Zhang L et al.
Frontiers in Pediatrics, 2025
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
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.
Lamzouri A et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
Shenoy RD et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022
Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Lu M et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022
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
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN et al.
Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 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