FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

Volume: 96, Issue: 5, Pages: 468 - 472
Published: Aug 6, 2019
Abstract
Pathogenic variants in genes encoding aminoacyl-tRNA synthetases cause numerous disorders characterized by involvement of neurons, muscles, lungs and liver. Recently, biallelic FARSB defects have been shown to cause severe growth restriction with combined brain, liver and lung involvement (Rajab interstitial lung disease [ILD] with brain calcifications). Herein, for the first time, we present a patient with similar condition associated with...
Paper Details
Title
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects
Published Date
Aug 6, 2019
Volume
96
Issue
5
Pages
468 - 472
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.