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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. 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.
5. Irving M, Holder-Espinasse M. Three M Syndrome. 2002 Mar 25 [updated 2019 Feb 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1481/
6. 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.