17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjorn Petersen, Charlotte Brasch-Andersen, Lone Sunde

20 Citations (Scopus)
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume170
Issue number11
Pages (from-to)2934-2942
ISSN1552-4825
DOIs
Publication statusPublished - 1 Nov 2016

Keywords

  • 17q12 deletion
  • 17q12 duplication
  • chromosomal microarray
  • array cgh
  • snp array
  • prenatal diagnostics
  • genetic counselling
  • learning disability
  • kidney anomalies

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