Article
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
Pediatric blood & cancer - 1 Mar 2012
Myers Kasiani, Davies Stella M, Harris Richard E, Spunt Sheri L, Smolarek Teresa, Zimmerman Sarah, McMasters Richard, Wagner Lars, Mueller Robin, Auerbach Arleen D, Mehta Parinda A
Abstract excerpt
Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies, and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion of children with FA with earlier onset and increased incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to chemotherapy and radiation, and upon development of a solid...
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