Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

Authors: Knight1Heiss2Vulliamy1Aalfs3McMahon4Richmond4Jones4Hennekam3Poustka2Mason1Dokal1

Source: British Journal of Haematology, Volume 107, Number 2, November 1999, pp. 335-339(5)

Publisher: Wiley-Blackwell

Keywords: Hoyeraal-Hreidarsson syndrome; aplastic anaemia; dyskeratosis congenita; immunodeficiency, cerebellar hypoplasia

Document Type: Original Article

Affiliations: 1: Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, U.K. 2: Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany 3: Institute of Human Genetics, Academic Medical Hospital, Amsterdam, Netherlands 4: Departments of Clinical Genetics and Immunology, Institute of Child Health, Great Ormond Street Hospital for Sick Children, London, U.K.

Publication date: 1999-11-01

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