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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

  • Author(s): Moore, Anthony
  • Martin, C-A
  • Ahmad, I
  • Klingseisen, A
  • Hussain, MS
  • Bicknell, LS
  • Leitch, A
  • Nürnberg, G
  • Toliat, MR
  • Murray, JE
  • Hunt, D
  • et al.

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Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical features of ciliopathies. Here we identify mutations in the

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