Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations

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1 Scopus citations


Fanconi anemia is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital anomalies, and markedly increased risk for malignancies. Mutations in the FANCF (FA-F) gene represent approximately 2% of affected patients. Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. Here, we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation.

Original languageEnglish (US)
Pages (from-to)260-263
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 1 2017


  • Fanconi anemia
  • bone marrow failuer
  • genotype–phenotype
  • hematopoietic cell transplantation

PubMed: MeSH publication types

  • Case Reports
  • Journal Article


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