Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy - Habarou, Florence; Haack, Tobias; Nitschke, Patrick; Kölker, Stefan; Korenke, Christoph; Marquardt, Iris (The American journal of human genetics, 2017)
Available online 27 July 2017