Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hum Mol Genet 25:4062-4079 (2016)
DOI:10.1093/hmg/ddw245