Rajab interstitial lung disease with brain calcification
Definition:
References:
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[1]. Anna Rajab, et al. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb;149A(2):129-37. [Content Brief]
[2]. Anthony Antonellis, et al. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat. 2018 Jun;39(6):834-840. [Content Brief]
[3]. Katarzyna Krenke, et al. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clin Genet. 2019 Nov;96(5):468-472. [Content Brief]