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Treacher Collins Syndrome, Dominant

MedGen UID:
893569
Concept ID:
CN239287
Disease or Syndrome

Professional guidelines

PubMed

Nicolaides KH, Johansson D, Donnai D, Rodeck CH
Prenat Diagn 1984 May-Jun;4(3):201-5. doi: 10.1002/pd.1970040307. PMID: 6463027

Recent clinical studies

Etiology

Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, Sun S, Hao SJ, Jin L, Chai G, Zhang TY
Mol Genet Genomics 2018 Apr;293(2):569-577. Epub 2017 Dec 11 doi: 10.1007/s00438-017-1384-3. PMID: 29230583
Passos-Bueno MR, Ornelas CC, Fanganiello RD
Am J Med Genet A 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. PMID: 19610085
Marres HA, Cremers CW, Marres EH, Huygen PL
Ann Otol Rhinol Laryngol 1995 Jan;104(1):31-41. doi: 10.1177/000348949510400106. PMID: 7832540

Diagnosis

Jahan A, Islam MN, Akhter M, Khan RH, Akhtaruzzaman M, Sharmin M, Zaman K, Tusnim I
Mymensingh Med J 2021 Apr;30(2):555-558. PMID: 33830142
Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, Liu D, Liu H, Li R, Hu X, Guan J, Tang W, Lu W
Mol Genet Genomic Med 2021 Feb;9(2):e1573. Epub 2020 Dec 17 doi: 10.1002/mgg3.1573. PMID: 33332773Free PMC Article
Cabanillas-Aquino AG, Rojas-Yauri MC, Atoche-Socola KJ, Arriola-Guillén LE
J Stomatol Oral Maxillofac Surg 2021 Nov;122(5):511-515. Epub 2020 Nov 7 doi: 10.1016/j.jormas.2020.10.011. PMID: 33166690
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D
Genet Med 2020 Mar;22(3):547-556. Epub 2019 Oct 24 doi: 10.1038/s41436-019-0669-9. PMID: 31649276Free PMC Article

Therapy

Sakai D, Dixon J, Achilleos A, Dixon M, Trainor PA
Nat Commun 2016 Jan 21;7:10328. doi: 10.1038/ncomms10328. PMID: 26792133Free PMC Article
Dinlen N, Zenciroğlu A, Dilli D, Aydin B, Beken S, Okumuş N
Genet Couns 2014;25(1):7-11. PMID: 24783649
Marsella P, Scorpecci A, Pacifico C, Tieri L
Int J Pediatr Otorhinolaryngol 2011 Oct;75(10):1308-12. Epub 2011 Aug 11 doi: 10.1016/j.ijporl.2011.07.020. PMID: 21839526
Jefferies JL, Kim JJ, Belmont JW, Friedman RA
Tex Heart Inst J 2009;36(4):349-51. PMID: 19693314Free PMC Article
Marres HA, Cremers CW, Marres EH, Huygen PL
Ann Otol Rhinol Laryngol 1995 Jan;104(1):31-41. doi: 10.1177/000348949510400106. PMID: 7832540

Prognosis

Mohan S, Del Rosario TJ, Pruett BE, Heard JA
Am J Case Rep 2021 Sep 4;22:e931974. doi: 10.12659/AJCR.931974. PMID: 34480792Free PMC Article
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G
J Craniofac Surg 2016 Sep;27(6):1420-6. doi: 10.1097/SCS.0000000000002719. PMID: 27300466
Passos-Bueno MR, Ornelas CC, Fanganiello RD
Am J Med Genet A 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. PMID: 19610085
Marres HA, Cremers CW, Marres EH, Huygen PL
Ann Otol Rhinol Laryngol 1995 Jan;104(1):31-41. doi: 10.1177/000348949510400106. PMID: 7832540

Clinical prediction guides

Fujii YR
Methods Mol Biol 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930
Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G
J Craniofac Surg 2016 Sep;27(6):1420-6. doi: 10.1097/SCS.0000000000002719. PMID: 27300466
Weiner AM, Scampoli NL, Calcaterra NB
PLoS One 2012;7(1):e29574. Epub 2012 Jan 25 doi: 10.1371/journal.pone.0029574. PMID: 22295061Free PMC Article
Passos-Bueno MR, Ornelas CC, Fanganiello RD
Am J Med Genet A 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. PMID: 19610085
Posnick JC, Ruiz RL
Cleft Palate Craniofac J 2000 Sep;37(5):434. doi: 10.1597/1545-1569(2000)037<0434:TCSCET>2.0.CO;2. PMID: 11034023

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