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References

1. Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC. Exploring the spectrum of 3-M syndrome, a primordial short staturedisorder of disrupted ubiquitination. Clin Endocrinol (Oxf). 2012Sep;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. Review.
2. Hanson D, Murray PG, Black GC, Clayton PE. The genetics of 3-M syndrome:unravelling a potential new regulatory growth pathway. Horm Res Paediatr.2011;76(6):369-78. doi: 10.1159/000334392.
3. Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F,Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S,Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi:10.1530/JME-12-0034. Print 2012 Dec.
4. Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, BieseckerLG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, ClaytonPE, Black GC. Exome sequencing identifies CCDC8 mutations in 3-M syndrome,suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to controlhuman growth. Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi:10.1016/j.ajhg.2011.05.028.
5. Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE,Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. The primordialgrowth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021.
6. Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X,Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, DosSantos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der BurgtI, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ,Winter R, Cormier-Daire V. Identification of mutations in CUL7 in 3-M syndrome.Nat Genet. 2005 Oct;37(10):1119-24.
7. Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A,Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. HumMutat. 2010 Jan;31(1):20-6. doi: 10.1002/humu.21150.
8. Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A,Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa M, Kuwano R, Onodera O. Clinical, molecular and histopathological features of short stature syndromewith novel CUL7 mutation in Yakuts: new population isolate in Asia. J Med Genet. 2007 Dec;44(12):772-8.
9. Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. 3-M syndrome:a report of three Egyptian cases with review of the literature. Clin Dysmorphol. 2006 Apr;15(2):55-64. Review.
10. van der Wal G, Otten BJ, Brunner HG, van der Burgt I. 3-M syndrome:description of six new patients with review of the literature. Clin Dysmorphol.2001 Oct;10(4):241-52. Review.