Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes spondyloepiphyseal dysplasia tarda (SEDT).
Davis EE, Savage JH, Willer JR, Jiang YH, Angrist M, Androutsopoulos A, Katsanis N, Clin Genet. 2013 May 8;. Abstract
