| 1 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1
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| 3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature.
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| Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS.
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| J Pediatr Pediatr. 2012 Feb 9. [Epub ahead of print]
2012
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| 2 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1
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| Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
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| Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC.
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| Am J Hum Genet 89(1):148-53. Epub 2011 Jul 7.
2011
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| 3 | GFS, GFS2, GFS3
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| The 3M syndrome.
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| Huber C, Munnich A, Cormier-Daire V.
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| Best Pract Res Clin Endocrinol Metab 25(1):143-51.
2011
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| 4 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1, SRS17
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| Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
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| Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L.
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| Am J Med Genet A 155A(6):1236-45. doi: 10.1002/ajmg.a.34009. Epub 2011 May 5.
2011
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| 5 | CCDC8, CUL7, GFS, GFS2, GFS3, OBSL1, SRS17
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| The genetics of 3-m syndrome: unravelling a potential new regulatory growth pathway.
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| Hanson D, Murray PG, Black GC, Clayton PE.
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| Horm Res Paediatr 76(6):369-78. doi: 10.1159/000334392. Epub 2011 Nov 29.
2011
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| 6 | gfs2, obsl1
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| OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
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| 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.
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| Hum Mutat. (1):20-6. 2010
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| 7 | GFS2, OBSL1
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| The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
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| 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.
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| Am J Hum Genet 84(6):801-6. Epub 2009 May 28.
2009
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