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Fanconiho anémia

  1. Subject h.Fanconiho anémia
    Subject h.Fanconi Anemia
    Entry termsFanconiho málokrvnosť
    Fanconiho hypoplastická anémia
    Fanconiho pancytopénia
    Fanconiho panmyelopatia
    English X referencesAnemia, Fanconi
    Scope note in EnglishCongenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
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