An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome

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 VM. An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61.