Article
Biallelic inactivation of REV7 is associated with Fanconi anemia.
The Journal of clinical investigation - 1 Sept 2016
Bluteau Dominique, Masliah-Planchon Julien, Clairmont Connor, Rousseau Alix, Ceccaldi Raphael, Dubois d'Enghien Catherine, Bluteau Olivier, Cuccuini Wendy, Gachet Stéphanie, Peffault de Latour Régis, Leblanc Thierry, Socié Gérard, Baruchel André, Stoppa-Lyonnet Dominique, D'Andrea Alan D, Soulier Jean
Abstract excerpt
Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalities, chromosome instability, progressive bone marrow failure (BMF), and a strong predisposition to cancer. Twenty FA genes have been identified, and the FANC proteins they encode cooperate in a common pathway that regulates DNA crosslink repair and replication fork stability. We identified a child with severe BMF who harbored...
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