La sindrome di Treacher Collins

di riferimento • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2020 Aug 20]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: www.ncbi.nlm.nih.gov/books/NBK1532/. • Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes (Basel) 2021;12(9):1392. doi: 10.3390/genes12091392. • Plomp RG, van Lieshout MJS, Joosten KFM, et al. Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. Plast Reconstr Surg 2016;137(1):191-204. doi: 10.1097/PRS.0000000000001896. • Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J  2000;37:434.  • Teber OA, Gillessen-Kaesbach G, Fischer S, 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. doi:10.1038/sj.ejhg.5201260. • Sanchez E, Laplace-Builhé B, Mau-Them FT, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med 2020;22(3):547-56. doi: 10.1038/s41436-019-0669-9.