@article{8a076d46736f4b59abdfe9a8eddecc62,
title = "An intronic mutation in dkc1 in an infant with h{\o}yeraal-hreidarsson syndrome",
author = "Toni Pearson and Fiona Curtis and Ayman Al-Eyadhy and Salem Al-Tamemi and Bruce Mazer and Yigal Dror and Sharon Abish and Sherri Bale and John Compton and Reena Ray and Patrick Scott and {Der Kaloustian}, {Vazken M.}",
year = "2008",
month = aug,
day = "15",
doi = "10.1002/ajmg.a.32412",
language = "English",
volume = "146",
pages = "2159--2161",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "16",
}