Expanding the phenotypic spectrum of FARSA-related interstitial lung disease: a pediatric case series and literature review.

Abstract excerpt

The FARSA gene encodes the catalytic α-subunit of cytoplasmic phenylalanyl-tRNA synthetase (FARS1), a key enzyme in protein biosynthesis. Biallelic pathogenic variants cause a rare multisystemic disorder of variable severity, usually characterized by early-onset interstitial lung disease (ILD) with neurological and hepatic involvement. We present two genetically confirmed cases of FARSA deficiency and one...

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