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

Carol Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S. Bicknell, Andrea Leitch, Gudrun Nürnberg, Mohammad Reza Toliat, Jennie E. Murray, David Hunt, Fawad Khan, Zafar Ali, Sigrid Tinschert, James Ding, Charlotte Keith, Margaret E. Harley, Patricia Heyn, Rolf Müller, Ingrid Hoffmann, Valérie Cormier DaireHélène Dollfus, Lucie Dupuis, Anu Bashamboo, Kenneth McElreavey, Ariana Kariminejad, Roberto Mendoza-Londono, Anthony T. Moore, Anand Saggar, Catie Schlechter, Richard Weleber, Holger Thiele, Janine Altmüller, Wolfgang Höhne, Matthew E. Hurles, Angelika Anna Noegel, Shahid Mahmood Baig, Peter Nürnberg, Andrew P. Jackson

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137 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology