Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications: Duplication of NSD1 causes growth retardation and microcephaly

  • J. A. Rosenfeld
  • , K. H. Kim
  • , B. Angle
  • , R. Troxell
  • , J. L. Gorski
  • , M. Westemeyer
  • , M. Frydman
  • , Y. Senturias
  • , D. Earl
  • , B. Torchia
  • , R. A. Schultz
  • , J. W. Ellison
  • , K. Tsuchiya
  • , S. Zimmerman
  • , T. A. Smolarek
  • , B. C. Ballif
  • , L. G. Shaffer*
  • *Corresponding author for this work

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12 Scopus citations

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Biochemistry, Genetics and Molecular Biology