Article
Genotype-phenotype correlations in Fanconi anemia.
Mutation research - 31 Jul 2009
Neveling Kornelia, Endt Daniela, Hoehn Holger, Schindler Detlev
Abstract excerpt
Although still incomplete, we now have a remarkably detailed and nuanced picture of both phenotypic and genotypic components of the FA spectrum. Initially described as a combination of pancytopenia with a limited number of physical anomalies, it was later recognized that additional features were compatible with the FA phenotype, including a form without detectable malformations (Estren-Dameshek variant). The...
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