References
- Les Cahiers d’Orphanet - Prévalence des maladies rares : Données bibliographiques - Janvier 2020 – Num 2.
- Cercle de Réflexion sur l’Imputabilité (CRI) : Yannick Arimone et al ; Réactualisation de la méthode française d’imputabilité des effets indésirables des médicaments ; Thérapie 2011 Novembre–Décembre; 66(6) : 517–525.
- Centre de Référence sur les Agents Tératogènes. Etat des connaissances sur la trimipramine. (Http://lecrat.fr/spip.php?page=article&id_article=250). Mise à jour : 6 juin 2019.
- Katsanis SH, Jabs EW. Treacher Collins Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1532/). Last Update: August 20, 2020.
- Da Silva Dalben G, Costa B, Gomide MR. Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006; 101:588–92.
- Ginger JS. Treacher Collins Syndrome: A Case Review. Advances in Neonatal Care 2011; 11; 6: 389–394.
- Dauwerse JG, Dixon J, Seland S, Ruivenkamp CAL, Haeringen AV, Hoefsloot LH et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011; 43:20–22.
- Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020; 22:547–56.
- Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med 2014; 16:720–724.
- Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. PNAS. 2006;103;36: 13403–13408.
- Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283–94.
- Calo E, Gu B, Bowen ME, Aryan F, Zalc A, Liang J, et al. Tissue–selective effects of nucleolar stress and rDNA damage in developmental disorders. Nature. 2018 Feb 1; 554(7690): 112–117.
- Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016; 18:49–56.