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 journalArticlepeer-review

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)

Fingerprint Dive into the research topics of 'An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome'. Together they form a unique fingerprint.

Cite this