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Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome

  • Lisa Karger
  • , Wahab A. Khan
  • , Rafaela Calabio
  • , Ram Singh
  • , Bixia Xiang
  • , Arvind Babu
  • , Ninette Cohen
  • , Amy C. Yang
  • , Stuart A. Scott

Research output: Contribution to journalLetterpeer-review

10 Scopus citations
Original languageEnglish
Pages (from-to)1436-1439
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number5
DOIs
StatePublished - May 2017

Keywords

  • CATSPER2
  • Prader–Willi syndrome
  • STRC
  • chromosome 15
  • deafness-infertility syndrome
  • uniparental disomy

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