A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome - Cossu, F; Vulliamy, T J; Marrone, A; Badiali, M; Cao, A; Dokal, I (Br J Haematol, 2002)