An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

Toni Pearson, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott, Vazken M. Der Kaloustian

Research output: Contribution to journalLetterpeer-review

19 Citations (Scopus)
Original languageEnglish
Pages (from-to)2159-2161
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number16
Publication statusPublished - Aug 15 2008
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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