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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
Assuntos:
Article
Acesso em linha: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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