PhenomeGene — Human Disease Gene Website SeriesEARS2

Publications

Barbosa-Gouveia S et al.Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. Genes (Basel). 2020;11(9):1028. PMID: 32887222.

Steenweg ME et al.Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.Brain 2012; 135: 1387-1394. PMID: 22492562.