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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
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
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ
Science 2010 Apr 30;328(5978):636-9. Epub 2010 Mar 10 doi: 10.1126/science.1186802. PMID: 20220176Free PMC Article
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
Lowry RB, Morgan K, Holmes TM, Metcalf PJ, Stauffer GF
Am J Med Genet 1985 Nov;22(3):501-12. doi: 10.1002/ajmg.1320220308. PMID: 4061487

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
Vendramini-Pittoli S, Kokitsu-Nakata NM
Clin Dysmorphol 2009 Apr;18(2):67-77. doi: 10.1097/MCD.0b013e328323a7dd. PMID: 19305190
Rodríguez JI, Palacios J, Urioste M
Am J Med Genet 1990 Apr;35(4):484-9. doi: 10.1002/ajmg.1320350408. PMID: 2333875
Hecht JT, Immken LL, Harris LF, Malini S, Scott CI Jr
Am J Med Genet 1987 Aug;27(4):965-9. doi: 10.1002/ajmg.1320270426. PMID: 3321996
Nance WE, McConnell FE
Adv Hum Genet 1973;4:173-250. doi: 10.1007/978-1-4615-8261-8_3. PMID: 4205901

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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