Complementation Studies in Fanconi Anemia
Fanconi anemia (FA) was originally described as an autosomal recessive disorder characterized by a progressive pancytopenia, diverse congenital abnormalities, and an increased predisposition to the development of malignancy (Fanconi 1967; Schroeder et al. 1976). More recently, it has been recognized that the phenotype is so variable that diagnosis on the basis of clinical manifestations alone is difficult and often unreliable (Glanz and Fraser 1982; Alter and Potter 1983). The enormous clinical variation seen in FA suggests that there is likely to be an underlying genetic heterogeneity.
KeywordsComplementation Study Chromosomal Breakage Hybrid Clone Maple Syrup Urine Disease Lambda Light Chain
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