Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. - Stephen J; Vilboux T; Mian L; Kuptanon C; Sinclair CM; Yildirimli D; Maynard DM; Bryant J; Fischer R; Vemulapalli M; Mullikin JC; Huizing M; et al. (Human genetics, 2017)