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, 2011-07, Vol.89 (1), p.148-153 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível