Article
Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 May 2005
Magdalena N, Pilonetto D V, Bitencourt M A, Pereira N F, Ribeiro R C, Jeng M, Pasquini R
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of...
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