• Media type: E-Article
  • Title: De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment GeneCHAMP1Cause Syndromic Intellectual Disability
  • Contributor: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; Mercier, Sandra; Vincent, Marie; Colin, Estelle; Bonneau, Dominique; Denommé, Anne-Sophie; Parent, Philippe; Gilbert-Dussardier, Brigitte; [...]
  • imprint: Hindawi Limited, 2016
  • Published in: Human Mutation
  • Language: English
  • DOI: 10.1002/humu.22952
  • ISSN: 1059-7794
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
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