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 journalArticle

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

ASJC Scopus subject areas

  • Genetics(clinical)

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    Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S., Mazer, B., Dror, Y., Abish, S., Bale, S., Compton, J., Ray, R., Scott, P., & Der Kaloustian, V. M. (2008). An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome. American Journal of Medical Genetics, Part A, 146(16), 2159-2161. https://doi.org/10.1002/ajmg.a.32412