Article
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.
Clinical immunology (Orlando, Fla.) - 1 Nov 2004
Gennery A R, Slatter M A, Bhattacharya A, Barge D, Haigh S, O'Driscoll M, Coleman R, Abinun M, Flood T J, Cant A J, Jeggo P A
Abstract excerpt
Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental abnormalities, growth retardation, progressive bone marrow failure, pancytopenia, and pronounced cancer predisposition. Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental delay, microcephaly, and cancer predisposition....
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