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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Autor: Ravenscroft G; Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia. Electronic address: gina.ravenscroft@perkins.uwa.edu.au., Di Donato N; Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, TU Dresden, Dresden, Germany., Hahn G; Institut und Poliklinik für Radiologische Diagnostik, Universitätsklinikum Dresden, Dresden, Germany., Davis MR; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia., Craven PD; John Hunter Children's Hospital, Hunter Valley, New South Wales, Australia., Poke G; Genetic Health Services, Auckland, New Zealand., Neas KR; Genetic Health Services, Auckland, New Zealand., Neuhann TM; Medizinisch Genetisches Zentrum, Munich, Germany., Dobyns WB; Seattle Children's Research Institute, Seattle, WA, USA., Laing NG; Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Nov; Vol. 26 (11), pp. 744-748. Date of Electronic Publication: 2016 Sep 19.