Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.1999.01690.x/fullpdf
Reference13 articles.
1. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia;Aalfs;European Journal of Pediatrics,1995
2. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia;Berthet;European Journal of Pediatrics,1994
3. Dyskeratosis congenita: an inherited bone marrow failure syndrome;Dokal;British Journal of Haematology,1996
4. Dyskeratosis congenita;Drachtman;Dermatologic Clinics,1995
5. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions;Heiss;Nature Genetics,1998
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