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An intronic mutation in DKC1 in an infant with Høyeraal-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. Pearson T, et al. Among authors: mazer b. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412. Am J Med Genet A. 2008. PMID: 18627054 No abstract available.
274 results