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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• Defining the phenotype of severe growth disorders, discovering new genes that control human growth and enhancing clinical practice

  Clayton, P. (Participant), Black, G. (Participant), Read, A. (Participant), Manson, F. (Participant), Hanson, D. (Participant) & Patel, L. (Participant)

  Impact: Health impacts