A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

@inproceedings{Zhang2016ANM,
  title={A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly},
  author={Shuhong Zhang and Corinne Pondarr{\'e} and Gaelle Pennarun and H{\'e}l{\`e}ne Labussi{\`e}re-Wallet and Gabriella Vera and Benoit France and Marie Chansel and Isabelle Rouvet and Patrick Revy and Bernard Lopez and J Steve Soulier and Pascale Bertrand and Isabelle Callebaut and Jean-Pierre de Villartay},
  booktitle={The Journal of experimental medicine},
  year={2016}
}
Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We… CONTINUE READING
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