Clinical Case Reports · 2017 · 30 citations · 12 references
Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.
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Lionel Arnaud, Carole Saison, Virginie Helias et al. · The American Journal of Human Genetics · 2010 · 196 citations · Full text
Transcriptional Regulation, Developmental Biology, Genetic Disorder +10
Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype
Belinda K. Singleton, Nicholas M. Burton, Carole Green et al. · Blood · 2008 · 166 citations