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- DOI: 10.1016/j.ajhg.2011.05.028
- PMID: 21737058
- UKPMCID: 21737058
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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
Hanson, Dan; Murray, Philip G; O'Sullivan, James; Urquhart, Jill; Daly, Sarah; Bhaskar, Sanjeev S; Biesecker, Leslie G; Skae, Mars; Smith, Claire; Cole, Trevor; Kirk, Jeremy; Chandler, Kate; Kingston, Helen; Donnai, Dian; Clayton, Peter E; Black, Graeme C M
American Journal of Human Genetics. 2011;89(1):148-153.
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Full-text held externally
- DOI: 10.1016/j.ajhg.2011.05.028
- PMID: 21737058
- UKPMCID: 21737058
Abstract
3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.