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A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

  • ACC Ho
  • , APY Liu
  • , KS Lun
  • , WF Tang
  • , KYK Chan
  • , EYT Lau
  • , MHY Tang
  • , TY Tana
  • , BHY Chung

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)
Original languageEnglish
Pages (from-to)758-762
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume55
Issue number12
DOIs
Publication statusPublished - Dec 2012
Externally publishedYes

Keywords

  • Aortic stenosis
  • Array comparative genomic hybridization
  • Chromosome 17p13.3
  • Chromosome aberration
  • Dysmorphism
  • Microcephaly
  • Microduplication

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