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 Yang, Stuart A. Scott

Research output: Contribution to journalLetter

2 Scopus citations
Original languageEnglish (US)
Pages (from-to)1436-1439
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number5
DOIs
StatePublished - May 1 2017
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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