3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
genetic conditions
References
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Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D,Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. COLEC10 ismutated in 3MC patients and regulates early craniofacial development. PLoS Genet.2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679.
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Selman L, Hansen S. Structure and function of collectin liver 1 (CL-L1) andcollectin 11 (CL-11, CL-K1). Immunobiology. 2012 Sep;217(9):851-63. doi:10.1016/j.imbio.2011.12.008.
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Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A.Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome:variable expression of a single disorder (3MC syndrome)? Am J Med Genet A. 2005Sep 1;137A(3):332-5.
Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S,Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J. Exploring the genetic basis of 3MC syndrome: Findings in 12further families. Am J Med Genet A. 2016 May;170A(5):1216-24. doi:10.1002/ajmg.a.37564.
Venkatraman Girija U, Furze CM, Gingras AR, Yoshizaki T, Ohtani K, MarshallJE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N,Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects ofmutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi:10.1186/s12915-015-0136-2.
Yongqing T, Wilmann PG, Reeve SB, Coetzer TH, Smith AI, Whisstock JC, Pike RN,Wijeyewickrema LC. The x-ray crystal structure of mannose-bindinglectin-associated serine proteinase-3 reveals the structural basis for enzymeinactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC)syndrome. J Biol Chem. 2013 Aug 2;288(31):22399-407. doi:10.1074/jbc.M113.483875. Epub 2013 Jun 21. Erratum in: J Biol Chem. 2013 Sep27;288(39):28307.
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