articleNature GeneticsNov 23, 2008GREEN OA

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

NBNicola Brunetti‐PierriJSJonathan S. BergFSFernando ScagliaJWJohn W. BelmontCACarlos A. Bacino

Baylor College of Medicine · Texas Children's Hospital · +22 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

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633
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33.69
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100%
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Authors

40

Topics & keywords

Topics
Keywords
  • Macrocephaly
  • Microcephaly
  • Biology
  • Penetrance
  • Genetics
  • Proband
  • Non-allelic homologous recombination
  • Copy-number variation
UN Sustainable Development Goals
  • Good health and well-being
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