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Complementation Studies in Fanconi Anemia

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Fanconi Anemia

Abstract

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.

This work was supported in part by Basil O’Connor Starter Research Grant No. 5–446 from the March of Dimes Birth Defects Foundation, by PHS Grants No.HL32987 and AI21061 from the National Institutes of Health, by a General Clinical Research Center Grant RR00102 from the National Institutes of Health to the Rockefeller University Hospital, and by support from the Pew Memorial Trust to the Laboratory for Investigative Dermatology.

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Authors
  1. A. D. Auerbach
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  2. R. E. Koorse
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  3. R. Ghosh
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  4. V. S. Venkatraj
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  5. M. Zhang
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  6. N. Chiorazzi
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Editor information

Editors and Affiliations

  1. Institut für Humangenetik und Anthropologie, der Universität Heidelberg, Im Neuenheimer Feld 328, D-6900, Heidelberg 1, Federal Republic of Germany

    Traute M. Schroeder-Kurth

  2. Laboratory for Investigative Dermatology, The Rockefeller University, 1230 York Avenue, 10021-6399, New York, NY, USA

    Arleen D. Auerbach Ph. D.

  3. Fachbereich 9 Genetik, Universität Gesamthochschule Essen, Universitätsstraße 5, D-4300, Essen 1, Federal Republic of Germany

    Günter Obe

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© 1989 Springer-Verlag Berlin Heidelberg

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Auerbach, A.D., Koorse, R.E., Ghosh, R., Venkatraj, V.S., Zhang, M., Chiorazzi, N. (1989). Complementation Studies in Fanconi Anemia. In: Schroeder-Kurth, T.M., Auerbach, A.D., Obe, G. (eds) Fanconi Anemia. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-74179-1_17

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  • DOI: https://doi.org/10.1007/978-3-642-74179-1_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-74181-4

  • Online ISBN: 978-3-642-74179-1

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