Publication PMID: 27640307

Harel T, Yoon WH, Garone C, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 99:831-845, 2016 Oct, PMID: 27640307, PMCID: PMC5065660