1. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. (4th October 2012) Authors: Thauvin‐Robinet, C; Thomas, S; Sinico, M; Aral, B; Burglen, L; Gigot, N; Dollfus, H; Rossignol, S; Raynaud, M; Philippe, C; Badens, C; Touraine, R; Gomes, C; Franco, B; Lopez, E; Elkhartoufi, N; Faivre, L; Munnich, A; Boddaert, N; Maldergem, L Van Journal: Clinical genetics Issue: Volume 84:Number 1(2013:Jul.) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗