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Article
Camurati–Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family
We report on a 46-year-old mother of Moroccan origin, suffering mainly from painful, swollen legs, and her 26-year-old son who had experienced intense pain in his legs, without fever, for approximately 3 years...
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Chapter
Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia
The Fanconi anemia (FA) syndrome was originally described by Guido Fanconi in 1927. In his report he described three brothers with a condition resembling pernicious anemia. Evidently the anemia was the main sy...
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Chapter
Fanconi Anemia in The Netherlands
Fanconi anemia (FA), first described by Fanconi in 1927, is an autosomal recessive disease characterized by aplastic anemia (pancytopenia with bone marrow hypoplasia) and associated with a variety of congenita...
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Article
Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia
Chromosomal breakage frequencies were determined in Fanconi anaemia (FA) blood cultures treated with various concentrations of the polyfunctional alkylating agents mitomycin C, diepoxybutane, and cis-platinum(II)...