A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic t...

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Publié dans:Eur J Hum Genet
Auteurs principaux: Rama, Mélanie, Duflos, Claire, Melki, Isabelle, Bessis, Didier, Bonhomme, Axelle, Martin, Hélène, Doummar, Diane, Valence, Stéphanie, Rodriguez, Diana, Carme, Emilie, Genevieve, David, Heimdal, Ketil, Insalaco, Antonella, Franck, Nathalie, Queyrel-Moranne, Viviane, Tieulie, Nathalie, London, Jonathan, Uettwiller, Florence, Georgin-Lavialle, Sophie, Belot, Alexandre, Koné-Paut, Isabelle, Hentgen, Véronique, Boursier, Guilaine, Touitou, Isabelle, Sarrabay, Guillaume
Format: Artigo
Langue:Inglês
Publié: Springer International Publishing 2018
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6018671/
https://ncbi.nlm.nih.gov/pubmed/29681619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0130-6
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