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

18 Scopus citations
Original languageEnglish
Pages (from-to)2159-2161
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number16
DOIs
StatePublished - Aug 15 2008

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