Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

Rolf J R J Janssen, Felix Distelmaier, Roel Smeets, Tessa Wijnhoven, Elsebet Østergaard, Nicolaas G J Jaspers, Anja Raams, Stephan Kemp, Richard J T Rodenburg, Peter H M G Willems, Lambert P W J van den Heuvel, Jan A M Smeitink, Leo G J Nijtmans