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Fanconi anemia (FA) is an autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to neoplasia. Patient cells manifest an extreme chromosomal instability and hypersensitivity to polyfunctional alkylating agents. It is assumed that the basic defect is related to the repair of DNA damage, in particular that of so-called DNA crosslinks. Currently there are eight complementation groups in FA (FA-A-FA-H) which indicates that at least eight independent genes can lead to FA. Three of these genes have been identified: FANCA, FANCC and FANCG. (from PMID 10472548)

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Individual Studies
  • Mouse Phenotypes - Thrombocytopenia

    Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

  • OMIM - Congenital disorder

    Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

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Thought leaders and organizations working on research involving Fanconi's anemia.

  • Alan D D'Andrea
  • Hans Joenje
  • Johan P de Winter
  • Weidong Wang
  • Amom Ruhikanta Meetei
  • National Heart, Lung, and Blood Institute (NHLBI)
  • Masonic Cancer Center, University of Minnesota
  • Oregon Health and Science University
  • Baylor College of Medicine
  • Fred Hutchinson Cancer Research Center
  • Dana-Farber Cancer Institute
  • Institute of Cancer Research
  • London Research Institute
  • National Institute on Aging
  • VU University Medical Center

Clinical Trials | 116 trials

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