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Treacher Collins Syndrome, Recessive

MedGen UID:
893595
Concept ID:
CN239289
Disease or Syndrome

Professional guidelines

PubMed

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

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
Ma X, Xie F, Zhang C, Xu J, Lu J, Teng L
J Craniofac Surg 2019 Jun;30(4):975-979. doi: 10.1097/SCS.0000000000005216. PMID: 31166254
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
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM
Am J Med Genet A 2013 Nov;161A(11):2855-9. Epub 2013 Sep 24 doi: 10.1002/ajmg.a.36172. PMID: 24108658
Alasti F, Van Camp G
J Med Genet 2009 Jun;46(6):361-9. Epub 2009 Mar 16 doi: 10.1136/jmg.2008.062158. PMID: 19293168

Diagnosis

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
Zhang C, An L, Xue H, Hao S, Yan Y, Zhang Q, Jin X, Li Q, Zhou B, Feng X, Ma P, Wang X, Chen X, Chen C, Cao Z, Ma X
J Clin Lab Anal 2021 Jan;35(1):e23567. Epub 2020 Sep 9 doi: 10.1002/jcla.23567. PMID: 32909271Free PMC Article
Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B
Genet Med 2014 Sep;16(9):720-4. Epub 2014 Mar 6 doi: 10.1038/gim.2014.12. PMID: 24603435
Cremers FP
Curr Opin Neurol 1998 Feb;11(1):11-6. doi: 10.1097/00019052-199802000-00003. PMID: 9484611
Moore GE
Int Rev Cytol 1995;158:215-77. doi: 10.1016/s0074-7696(08)62488-2. PMID: 7721539

Clinical prediction guides

Kara B, Köroğlu Ç, Peltonen K, Steinberg RC, Maraş Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, Solakoğlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A
Eur J Hum Genet 2017 Feb;25(3):315-323. Epub 2017 Jan 4 doi: 10.1038/ejhg.2016.183. PMID: 28051070Free PMC Article
Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D, Simpson MA
Am J Med Genet A 2016 Dec;170(12):3133-3137. Epub 2016 Sep 19 doi: 10.1002/ajmg.a.37946. PMID: 27642715
Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B
Genet Med 2014 Sep;16(9):720-4. Epub 2014 Mar 6 doi: 10.1038/gim.2014.12. PMID: 24603435
Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG
Genome Res 2011 Sep;21(9):1529-42. Epub 2011 Jun 23 doi: 10.1101/gr.123158.111. PMID: 21700766Free PMC Article
Vendramini-Pittoli S, Kokitsu-Nakata NM
Clin Dysmorphol 2009 Apr;18(2):67-77. doi: 10.1097/MCD.0b013e328323a7dd. PMID: 19305190

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