FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects
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
Journal
Volume
96
Issue
5
Pages
468 - 472
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