Article
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
American journal of medical genetics. Part A - 1 Jan 2017
Tryon Rebecca, Zierhut Heather, MacMillan Margaret L, Wagner John E
Abstract excerpt
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...
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