Interstitial lung and liver disease
Definition:
References:
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[1]. Alice Hadchouel, et al. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. Am J Hum Genet. 2015 May 7;96(5):826-31. [Content Brief]
[2]. Eline van Meel, et al. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013 Oct 8;14:106. [Content Brief]
[3]. Jonathan Rips, et al. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. Eur J Med Genet. 2018 Oct;61(10):616-620. [Content Brief]
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