Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Authors: Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A. Reed, Ines Dierick, Nathalie Verpoorten, Thomas T. Warner, Christos Proukakis, Peter Van den Bergh, Christine Verellen, Lionel Van Maldergem, Luciano Merlini, Peter De Jonghe, Vincent Timmerman, Andrew H. Crosby, Klaus Wagner - Nature Genetics 2004 cited by 380