articleNature GeneticsJun 24, 2012GREEN OA

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

JRJean-Baptiste RivièreGMGhayda MirzaaBJBrian J. O’RoakMBMargaret BeddaouiDADiana Alcantara

Seattle Children's Hospital · University of Chicago · +27 more institutions

PubMed
Indexed incrossrefpubmed

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Topics & keywords

Topics
Keywords
  • Megalencephaly
  • Biology
  • Polymicrogyria
  • Exome sequencing
  • Genetics
  • Polydactyly
  • Context (archaeology)
  • Sanger sequencing
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