Systemic inflammatory syndrome in children with FARSA deficiency

Variants in aminoacyl‐tRNA synthetases (ARSs) genes are associated to a broad spectrum of human inherited diseases. Patients with defective PheRS, encoded by FARSA and FARSB, display brain abnormalities, interstitial lung disease and facial dysmorphism. We investigated four children from two unrelat...

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Detalles Bibliográficos
Autores principales: Charbit‐Henrion, Fabienne, Goguyer‐Deschaumes, Roman, Borensztajn, Keren, Mirande, Marc, Berthelet, Jérémy, Rodrigues‐Lima, Fernando, Khiat, Anis, Frémond, Marie‐Louise, Bader‐Meunier, Brigitte, Rodari, Marco M., Seabra, Luis, Rice, Gillian I., Legendre, Marie, Drummond, David, Berteloot, Laureline, Roux, Charles‐Joris, Boddaert, Nathalie, Drabent, Philippe, Molina, Thierry Jo, Lacaille, Florence, Kossorotoff, Manoelle, Cerf‐Bensussan, Nadine, Parlato, Marianna, Hadchouel, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303323/
https://www.ncbi.nlm.nih.gov/pubmed/35132614
http://dx.doi.org/10.1111/cge.14120

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