Article
Systemic inflammatory syndrome in children with FARSA deficiency.
Clinical genetics - 1 May 2022
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
Abstract excerpt
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 unrelated consanguineous families carrying two missense homozygous variants in FARSA with significantly reduced...
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